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WormBase Tree Display for Variation: WBVar00189325

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WBVar00189325	Evidence	Paper_evidence	WBPaper00038208
	Name	Public_name	WBVar00189325
		Other_name	haw56601
			haw152795
			cewivar00039873
			C11D2.6l.1:c.3488G>A
			C11D2.6f.1:c.3242G>A
			CE48791:p.Ser1141Asn
			C11D2.6p.1:c.3542G>A
			CE48978:p.Ser1115Asn
			C11D2.6i.1:c.3488G>A
			C11D2.6n.1:c.3440G>A
			CE49197:p.Ser1163Asn
			CE49262:p.Ser1147Asn
			C11D2.6m.1:c.3542G>A
			C11D2.6k.1:c.3386G>A
			C11D2.6e.1:c.3422G>A
			CE49437:p.Ser1175Asn
			C11D2.6b.1:c.3242G>A
			C11D2.6g.1:c.3524G>A
			CE49351:p.Ser1147Asn
			C11D2.6h.1:c.3344G>A
			C11D2.6j.1:c.3386G>A
			CE49459:p.Ser1129Asn
			CE37196:p.Ser1175Asn
			CE49195:p.Ser1181Asn
			CE49219:p.Ser1129Asn
			CE49155:p.Ser1163Asn
			CE48950:p.Ser1081Asn
			CE48736:p.Ser1141Asn
			CE49180:p.Ser1115Asn
			CE48883:p.Ser1081Asn
			CE49413:p.Ser1181Asn
			C11D2.6a.1:c.3422G>A
			C11D2.6c.1:c.3344G>A
			C11D2.6d.1:c.3524G>A
			C11D2.6o.1:c.3440G>A
		HGVSg	CHROMOSOME_IV:g.6162656C>T
	Sequence_details	SMap	S_parent	Sequence	C11D2
		Flanking_sequences	tacaacagcccatggtccatgtcta	tccataaaatatctcgaatcacatt
		Mapping_target	C11D2
		Type_of_mutation	Substitution	C	T
		SeqStatus	Sequenced
	Variation_type	SNP
		Predicted_SNP
		Natural_variant
	Origin	Species	Caenorhabditis elegans
		Strain	WBStrain00000032	From_analysis	Million_mutation_project_reanalysis
			WBStrain00004602	From_analysis	WGS_Hawaiian_Waterston
					WGS_Yanai
					Million_mutation_project_reanalysis
			WBStrain00022868	From_analysis	Million_mutation_project_reanalysis
			WBStrain00022899	From_analysis	Million_mutation_project_reanalysis
			WBStrain00023139	From_analysis	Million_mutation_project_reanalysis
			WBStrain00023286	From_analysis	Million_mutation_project_reanalysis
			WBStrain00027648	From_analysis	Million_mutation_project_reanalysis
			WBStrain00027660	From_analysis	Million_mutation_project_reanalysis
			WBStrain00027662	From_analysis	Million_mutation_project_reanalysis
		Laboratory	RW
		Person	WBPerson1562
			WBPerson4037
		Analysis	WGS_Hawaiian_Waterston
			WGS_Yanai
			Million_mutation_project_reanalysis
		History	Acquires_merge	WBVar00572660
		Status	Live
	Affects	Gene	WBGene00006809
		Transcript	C11D2.6b.1	VEP_consequence	missense_variant
				VEP_impact	MODERATE
				SIFT	0.29	tolerated
				PolyPhen	0.02	benign
				HGVSc	C11D2.6b.1:c.3242G>A
				HGVSp	CE48883:p.Ser1081Asn
				cDNA_position	3242
				CDS_position	3242
				Protein_position	1081
				Exon_number	18/27
				Codon_change	aGt/aAt
				Amino_acid_change	S/N
			C11D2.6i.1	VEP_consequence	missense_variant
				VEP_impact	MODERATE
				SIFT	0.28	tolerated
				PolyPhen	0.338	benign
				HGVSc	C11D2.6i.1:c.3488G>A
				HGVSp	CE49155:p.Ser1163Asn
				cDNA_position	3488
				CDS_position	3488
				Protein_position	1163
				Exon_number	20/29
				Codon_change	aGt/aAt
				Amino_acid_change	S/N
			C11D2.6a.1	VEP_consequence	missense_variant
				VEP_impact	MODERATE
				SIFT	0.3	tolerated
				PolyPhen	0.02	benign
				HGVSc	C11D2.6a.1:c.3422G>A
				HGVSp	CE48736:p.Ser1141Asn
				cDNA_position	3525
				CDS_position	3422
				Protein_position	1141
				Exon_number	20/30
				Codon_change	aGt/aAt
				Amino_acid_change	S/N
			C11D2.6l.1	VEP_consequence	missense_variant
				VEP_impact	MODERATE
				SIFT	0.28	tolerated
				PolyPhen	0.204	benign
				HGVSc	C11D2.6l.1:c.3488G>A
				HGVSp	CE49197:p.Ser1163Asn
				cDNA_position	3488
				CDS_position	3488
				Protein_position	1163
				Exon_number	20/28
				Codon_change	aGt/aAt
				Amino_acid_change	S/N
			C11D2.6e.1	VEP_consequence	missense_variant
				VEP_impact	MODERATE
				SIFT	0.31	tolerated
				PolyPhen	0.02	benign
				HGVSc	C11D2.6e.1:c.3422G>A
				HGVSp	CE48791:p.Ser1141Asn
				cDNA_position	3422
				CDS_position	3422
				Protein_position	1141
				Exon_number	19/28
				Codon_change	aGt/aAt
				Amino_acid_change	S/N
			C11D2.6g.1	VEP_consequence	missense_variant
				VEP_impact	MODERATE
				SIFT	0.28	tolerated
				PolyPhen	0.338	benign
				HGVSc	C11D2.6g.1:c.3524G>A
				HGVSp	CE49437:p.Ser1175Asn
				cDNA_position	3524
				CDS_position	3524
				Protein_position	1175
				Exon_number	20/28
				Codon_change	aGt/aAt
				Amino_acid_change	S/N
			C11D2.6m.1	VEP_consequence	missense_variant
				VEP_impact	MODERATE
				SIFT	0.28	tolerated
				PolyPhen	0.338	benign
				HGVSc	C11D2.6m.1:c.3542G>A
				HGVSp	CE49195:p.Ser1181Asn
				cDNA_position	3542
				CDS_position	3542
				Protein_position	1181
				Exon_number	21/30
				Codon_change	aGt/aAt
				Amino_acid_change	S/N
			C11D2.6k.1	VEP_consequence	missense_variant
				VEP_impact	MODERATE
				SIFT	0.3	tolerated
				PolyPhen	0.02	benign
				HGVSc	C11D2.6k.1:c.3386G>A
				HGVSp	CE49459:p.Ser1129Asn
				cDNA_position	3386
				CDS_position	3386
				Protein_position	1129
				Exon_number	19/28
				Codon_change	aGt/aAt
				Amino_acid_change	S/N
			C11D2.6o.1	VEP_consequence	missense_variant
				VEP_impact	MODERATE
				SIFT	0.3	tolerated
				PolyPhen	0.02	benign
				HGVSc	C11D2.6o.1:c.3440G>A
				HGVSp	CE49351:p.Ser1147Asn
				cDNA_position	3440
				CDS_position	3440
				Protein_position	1147
				Exon_number	20/29
				Codon_change	aGt/aAt
				Amino_acid_change	S/N
			C11D2.6p.1	VEP_consequence	missense_variant
				VEP_impact	MODERATE
				SIFT	0.28	tolerated
				PolyPhen	0.338	benign
				HGVSc	C11D2.6p.1:c.3542G>A
				HGVSp	CE49413:p.Ser1181Asn
				cDNA_position	3542
				CDS_position	3542
				Protein_position	1181
				Exon_number	21/29
				Codon_change	aGt/aAt
				Amino_acid_change	S/N
			C11D2.6f.1	VEP_consequence	missense_variant
				VEP_impact	MODERATE
				SIFT	0.3	tolerated
				PolyPhen	0.007	benign
				HGVSc	C11D2.6f.1:c.3242G>A
				HGVSp	CE48950:p.Ser1081Asn
				cDNA_position	3242
				CDS_position	3242
				Protein_position	1081
				Exon_number	18/26
				Codon_change	aGt/aAt
				Amino_acid_change	S/N
			C11D2.6d.1	VEP_consequence	missense_variant
				VEP_impact	MODERATE
				SIFT	0.28	tolerated
				PolyPhen	0.338	benign
				HGVSc	C11D2.6d.1:c.3524G>A
				HGVSp	CE37196:p.Ser1175Asn
				cDNA_position	3524
				CDS_position	3524
				Protein_position	1175
				Exon_number	20/29
				Codon_change	aGt/aAt
				Amino_acid_change	S/N
			C11D2.6c.1	VEP_consequence	missense_variant
				VEP_impact	MODERATE
				SIFT	0.28	tolerated
				PolyPhen	0.152	benign
				HGVSc	C11D2.6c.1:c.3344G>A
				HGVSp	CE48978:p.Ser1115Asn
				cDNA_position	3344
				CDS_position	3344
				Protein_position	1115
				Exon_number	19/29
				Codon_change	aGt/aAt
				Amino_acid_change	S/N
			C11D2.6h.1	VEP_consequence	missense_variant
				VEP_impact	MODERATE
				SIFT	0.27	tolerated
				PolyPhen	0.082	benign
				HGVSc	C11D2.6h.1:c.3344G>A
				HGVSp	CE49180:p.Ser1115Asn
				cDNA_position	3344
				CDS_position	3344
				Protein_position	1115
				Exon_number	19/27
				Codon_change	aGt/aAt
				Amino_acid_change	S/N
			C11D2.6n.1	VEP_consequence	missense_variant
				VEP_impact	MODERATE
				SIFT	0.3	tolerated
				PolyPhen	0.02	benign
				HGVSc	C11D2.6n.1:c.3440G>A
				HGVSp	CE49262:p.Ser1147Asn
				cDNA_position	3440
				CDS_position	3440
				Protein_position	1147
				Exon_number	20/28
				Codon_change	aGt/aAt
				Amino_acid_change	S/N
			C11D2.6j.1	VEP_consequence	missense_variant
				VEP_impact	MODERATE
				SIFT	0.3	tolerated
				PolyPhen	0.02	benign
				HGVSc	C11D2.6j.1:c.3386G>A
				HGVSp	CE49219:p.Ser1129Asn
				cDNA_position	3386
				CDS_position	3386
				Protein_position	1129
				Exon_number	19/27
				Codon_change	aGt/aAt
				Amino_acid_change	S/N
	Reference	WBPaper00038208
	Remark	[20081124 db] this Variation was previously named hw56601
	Method	WGS_Hawaiian_Waterston