chr6:7582855:A>T Detail (hg38) (DSP)

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

Genome

Assembly	Position
hg19	chr6:7,583,088-7,583,088 View the variant detail on this assembly version.
hg38	chr6:7,582,855-7,582,855

HGVS

DSP

Type	Transcript	Protein
RefSeq	NM_004415.3:c.5593A>T	NP_004406.2:p.Asn1865Tyr
	NM_001008844.2:c.3796A>T	NP_001008844.1:p.Asn1266Tyr
	NM_001319034.1:c.3796A>T	NP_001305963.1:p.Asn1266Tyr
Ensemble	ENST00000379802.8:c.5593A>T	ENST00000379802.8:p.Asn1865Tyr
	ENST00000418664.3:c.3796A>T	ENST00000418664.3:p.Asn1266Tyr
	ENST00000710359.2:c.4264A>T	ENST00000710359.2:p.Asn1422Tyr
	ENST00000713904.1:c.5467A>T	ENST00000713904.1:p.Asn1823Tyr
	ENST00000713909.1:c.3298A>T	ENST00000713909.1:p.Asn1100Tyr

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
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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	tgv340142214	TogoVar
	COSMIC	COSM4601475	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely benign	2017-04-27	criteria provided, single submitter	Woolly hair-skin fragility syndrome	germline	Detail
Likely benign	2017-04-27	criteria provided, single submitter	arrhythmogenic right ventricular dysplasia 8	germline	Detail
Likely benign	2017-04-27	criteria provided, single submitter	Lethal acantholytic epidermolysis bullosa	germline	Detail
Conflicting interpretations of pathogenicity	2020-09-08	criteria provided, conflicting interpretations	not provided	germline	Detail
Likely benign	2018-10-10	criteria provided, single submitter	cardiomyopathy	germline	Detail
Likely benign	2024-01-01	criteria provided, single submitter	arrhythmogenic right ventricular dysplasia 8,Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	germline	Detail
Likely benign	2024-01-01	criteria provided, single submitter	arrhythmogenic right ventricular dysplasia 8,Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	germline	Detail
Likely benign	2019-06-24	criteria provided, single submitter		germline	Detail
Likely benign	2022-02-27	criteria provided, single submitter	DSP-related disorder	germline	Detail
Likely benign	2023-12-15	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.5593A>T (p.Asn1865Tyr) AND Woolly hair-skin fragility syndrome	ClinVar	Detail
NM_004415.4(DSP):c.5593A>T (p.Asn1865Tyr) AND Arrhythmogenic right ventricular dysplasia 8	ClinVar	Detail
NM_004415.4(DSP):c.5593A>T (p.Asn1865Tyr) AND Lethal acantholytic epidermolysis bullosa	ClinVar	Detail
NM_004415.4(DSP):c.5593A>T (p.Asn1865Tyr) AND not provided	ClinVar	Detail
NM_004415.4(DSP):c.5593A>T (p.Asn1865Tyr) AND Cardiomyopathy	ClinVar	Detail
NM_004415.4(DSP):c.5593A>T (p.Asn1865Tyr) AND multiple conditions	ClinVar	Detail
NM_004415.4(DSP):c.5593A>T (p.Asn1865Tyr) AND multiple conditions	ClinVar	Detail
NM_004415.4(DSP):c.5593A>T (p.Asn1865Tyr) AND Cardiovascular phenotype	ClinVar	Detail
NM_004415.4(DSP):c.5593A>T (p.Asn1865Tyr) AND DSP-related disorder	ClinVar	Detail
NM_004415.4(DSP):c.5593A>T (p.Asn1865Tyr) AND Arrhythmogenic cardiomyopathy with wooly hair and kera...	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: rs562015789 dbSNP
Genome: hg38
Position: chr6:7,582,855-7,582,855
Variant Type: snv
Reference Allele: A
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8654
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): 121396
Allele Counts in All Race (ExAC): 62
Heterozygous Counts in All Race (ExAC): 60
Homozygous Counts in All Race (ExAC): 1
Allele Frequency in All Race (ExAC): 5.107252298263534E-4

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