chr6:7541924:C>T Detail (hg38) (DSP, DSP-AS1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr6:7,542,157-7,542,157 View the variant detail on this assembly version.
hg38	chr6:7,541,924-7,541,924

HGVS

DSP

Type	Transcript	Protein
RefSeq	NM_004415.3:c.9C>T	NP_004406.2:p.Cys3=
	NM_001008844.2:c.9C>T	NP_001008844.1:p.Cys3=
	NM_001319034.1:c.9C>T	NP_001305963.1:p.Cys3=
Ensemble	ENST00000379802.8:c.9C>T	ENST00000379802.8:p.Cys3=
	ENST00000418664.3:c.9C>T	ENST00000418664.3:p.Cys3=
	ENST00000683682.2:c.9C>T	ENST00000683682.2:p.Cys3=
	ENST00000710359.2:c.9C>T	ENST00000710359.2:p.Cys3=
	ENST00000713909.1:c.9C>T	ENST00000713909.1:p.Cys3=
	ENST00000713910.1:c.9C>T	ENST00000713910.1:p.Cys3=
	ENST00000713918.1:c.9C>T	ENST00000713918.1:p.Cys3=

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
Review star
Show details

Links

DSP

Type	Database	ID	Link
Gene	MIM	125647	OMIM
	HGNC	3052	HGNC
	Ensembl	ENSG00000096696	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2018-01-12	criteria provided, single submitter	Woolly hair-skin fragility syndrome	germline	Detail
Uncertain significance	2018-01-12	criteria provided, single submitter	Lethal acantholytic epidermolysis bullosa	germline	Detail
Uncertain significance	2018-01-12	criteria provided, single submitter	arrhythmogenic right ventricular dysplasia 8	germline	Detail
Likely benign	2016-06-08	criteria provided, single submitter		germline	Detail
Likely benign	2023-11-08	criteria provided, single submitter	arrhythmogenic right ventricular dysplasia 8,Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	germline	Detail
Likely benign	2023-11-08	criteria provided, single submitter	arrhythmogenic right ventricular dysplasia 8,Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	germline	Detail
Likely benign	2023-07-22	criteria provided, single submitter	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_004415.4(DSP):c.9C>T (p.Cys3=) AND Woolly hair-skin fragility syndrome	ClinVar	Detail
NM_004415.4(DSP):c.9C>T (p.Cys3=) AND Lethal acantholytic epidermolysis bullosa	ClinVar	Detail
NM_004415.4(DSP):c.9C>T (p.Cys3=) AND Arrhythmogenic right ventricular dysplasia 8	ClinVar	Detail
NM_004415.4(DSP):c.9C>T (p.Cys3=) AND Cardiovascular phenotype	ClinVar	Detail
NM_004415.4(DSP):c.9C>T (p.Cys3=) AND multiple conditions	ClinVar	Detail
NM_004415.4(DSP):c.9C>T (p.Cys3=) AND multiple conditions	ClinVar	Detail
NM_004415.4(DSP):c.9C>T (p.Cys3=) AND Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	ClinVar	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs769032973 dbSNP
Genome: hg38
Position: chr6:7,541,924-7,541,924
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 6768
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 84228
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.1872536448686898E-5

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