chrX:32573852:G>A Detail (hg38) (DMD)

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

Information

Genome

Assembly	Position
hg19	chrX:32,591,969-32,591,969 View the variant detail on this assembly version.
hg38	chrX:32,573,852-32,573,852

HGVS

DMD

Type	Transcript	Protein
RefSeq	NM_000109.3:c.1603-6C>T
	NM_004006.2:c.1603-6C>T
	NM_004009.3:c.1591-6C>T
	NM_004010.3:c.1591-6C>T
Ensemble	ENST00000288447.9:c.1579-6C>T
	ENST00000357033.9:c.1603-6C>T
	ENST00000378677.6:c.1591-6C>T

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

DMD

Type	Database	ID	Link
Gene	MIM	300377	OMIM
	HGNC	2928	HGNC
	Ensembl	ENSG00000198947	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	2017-01-09	criteria provided, single submitter	not provided	germline	Detail
Likely benign	2023-10-30	criteria provided, single submitter	Duchenne muscular dystrophy	germline	Detail
Likely benign	2021-03-08	no assertion criteria provided	cardiomyopathy,Duchenne muscular dystrophy,Dystrophin deficiency,Becker muscular dystrophy	germline	Detail
Likely benign	2021-03-08	no assertion criteria provided	cardiomyopathy,Duchenne muscular dystrophy,Dystrophin deficiency,Becker muscular dystrophy	germline	Detail
Likely benign	2021-03-08	no assertion criteria provided	cardiomyopathy,Duchenne muscular dystrophy,Dystrophin deficiency,Becker muscular dystrophy	germline	Detail
Likely benign	2021-03-08	no assertion criteria provided	cardiomyopathy,Duchenne muscular dystrophy,Dystrophin deficiency,Becker muscular dystrophy	germline	Detail
Likely benign	2020-02-25	criteria provided, single submitter	DMD-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_004006.3(DMD):c.1603-6C>T AND not provided	ClinVar	Detail
NM_004006.3(DMD):c.1603-6C>T AND Duchenne muscular dystrophy	ClinVar	Detail
NM_004006.3(DMD):c.1603-6C>T AND multiple conditions	ClinVar	Detail
NM_004006.3(DMD):c.1603-6C>T AND multiple conditions	ClinVar	Detail
NM_004006.3(DMD):c.1603-6C>T AND multiple conditions	ClinVar	Detail
NM_004006.3(DMD):c.1603-6C>T AND multiple conditions	ClinVar	Detail
NM_004006.3(DMD):c.1603-6C>T AND DMD-related disorder	ClinVar	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs774626474 dbSNP
Genome: hg38
Position: chrX:32,573,852-32,573,852
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 6081
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): 76734
Allele Counts in All Race (ExAC): 6
Heterozygous Counts in All Race (ExAC): 6
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 7.81921964187974E-5
East Asian Hemizygous Counts (ExAC): 0
Hemizygous Counts in All Race (ExAC): 0

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