chrX:31178784:G>A Detail (hg38) (DMD)

Go to:

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

Information

Genome

Assembly	Position
hg19	chrX:31,196,901-31,196,901 View the variant detail on this assembly version.
hg38	chrX:31,178,784-31,178,784

HGVS

Type	Transcript	Protein
RefSeq	NM_004014.2:c.1963C>T	NP_004005.1:p.Arg655Ter
	NM_000109.3:c.10108C>T	NP_000100.2:p.Arg3370Ter
	NM_004006.2:c.10108C>T	NP_003997.1:p.Arg3370Ter
	NM_004022.2:c.2728C>T	NP_004013.1:p.Arg910Ter
	NM_004018.2:c.904C>T	NP_004009.1:p.Arg302Ter
	NM_004009.3:c.10096C>T	NP_004000.1:p.Arg3366Ter
	NM_004010.3:c.10096C>T	NP_004001.1:p.Arg3366Ter
	NM_004019.2:c.904C>T	NP_004010.1:p.Arg302Ter
	NM_004015.2:c.904C>T	NP_004006.1:p.Arg302Ter
	NM_004017.2:c.904C>T	NP_004008.1:p.Arg302Ter
	NM_004011.3:c.2728C>T	NP_004002.2:p.Arg910Ter
	NM_004012.3:c.2728C>T	NP_004003.1:p.Arg910Ter
	NM_004013.2:c.2728C>T	NP_004004.1:p.Arg910Ter
	NM_004016.2:c.904C>T	NP_004007.1:p.Arg302Ter
	NM_004021.2:c.2728C>T	NP_004012.1:p.Arg910Ter
	NM_004020.3:c.2728C>T	NP_004011.2:p.Arg910Ter
	NM_004023.2:c.2728C>T	NP_004014.1:p.Arg910Ter
Ensemble	ENST00000343523.7:c.1963C>T	ENST00000343523.7:p.Arg655Ter
	ENST00000357033.9:c.10108C>T	ENST00000357033.9:p.Arg3370Ter
	ENST00000359836.5:c.2728C>T	ENST00000359836.5:p.Arg910Ter
	ENST00000361471.8:c.904C>T	ENST00000361471.8:p.Arg302Ter
	ENST00000378677.6:c.10096C>T	ENST00000378677.6:p.Arg3366Ter
	ENST00000378680.6:c.904C>T	ENST00000378680.6:p.Arg302Ter
	ENST00000378702.8:c.904C>T	ENST00000378702.8:p.Arg302Ter
	ENST00000378707.7:c.2728C>T	ENST00000378707.7:p.Arg910Ter
	ENST00000378723.7:c.904C>T	ENST00000378723.7:p.Arg302Ter
	ENST00000474231.5:c.2728C>T	ENST00000474231.5:p.Arg910Ter
	ENST00000541735.5:c.2728C>T	ENST00000541735.5:p.Arg910Ter
	ENST00000619831.5:c.6076C>T	ENST00000619831.5:p.Arg2026Ter
	ENST00000620040.5:c.2728C>T	ENST00000620040.5:p.Arg910Ter
	ENST00000680162.2:c.904C>T	ENST00000680162.2:p.Arg302Ter
	ENST00000680355.1:c.904C>T	ENST00000680355.1:p.Arg302Ter
	ENST00000680557.1:c.603+25177C>T
	ENST00000680768.2:c.904C>T	ENST00000680768.2:p.Arg302Ter
	ENST00000681153.1:c.904C>T	ENST00000681153.1:p.Arg302Ter
	ENST00000682238.1:c.2728C>T	ENST00000682238.1:p.Arg910Ter
	ENST00000682322.1:c.904C>T	ENST00000682322.1:p.Arg302Ter
	ENST00000682600.1:c.904C>T	ENST00000682600.1:p.Arg302Ter
	ENST00000684130.1:c.2728C>T	ENST00000684130.1:p.Arg910Ter

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	2
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
Show details

Links

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	COSM3424731	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		other	germline	MGS000001 (TMGS000137)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-10-08	criteria provided, multiple submitters, no conflicts	Duchenne muscular dystrophy	germline	Detail
Pathogenic	2014-04-14	no assertion criteria provided	Becker muscular dystrophy	germline	Detail
Pathogenic	2022-11-04	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2017-03-17	no assertion criteria provided	Duchenne muscular dystrophy,cardiomyopathy,Becker muscular dystrophy,Dystrophin deficiency	germline	Detail
Pathogenic	2017-03-17	no assertion criteria provided	Duchenne muscular dystrophy,cardiomyopathy,Becker muscular dystrophy,Dystrophin deficiency	germline	Detail
Pathogenic	2017-03-17	no assertion criteria provided	Duchenne muscular dystrophy,cardiomyopathy,Becker muscular dystrophy,Dystrophin deficiency	germline	Detail
Pathogenic	2017-03-17	no assertion criteria provided	Duchenne muscular dystrophy,cardiomyopathy,Becker muscular dystrophy,Dystrophin deficiency	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Links
0.730	Muscular Dystrophy, Duchenne	NA	CLINVAR	Detail
0.372	Dmd-Associated Dilated Cardiomyopathy	NA	CLINVAR	Detail
0.498	Becker muscular dystrophy	NA	CLINVAR	Detail

Annotation

Annotations

Descrption	Source	Links
NM_004006.3(DMD):c.10108C>T (p.Arg3370Ter) AND Duchenne muscular dystrophy	ClinVar	Detail
NM_004006.3(DMD):c.10108C>T (p.Arg3370Ter) AND Becker muscular dystrophy	ClinVar	Detail
NM_004006.3(DMD):c.10108C>T (p.Arg3370Ter) AND not provided	ClinVar	Detail
NM_004006.3(DMD):c.10108C>T (p.Arg3370Ter) AND multiple conditions	ClinVar	Detail
NM_004006.3(DMD):c.10108C>T (p.Arg3370Ter) AND multiple conditions	ClinVar	Detail
NM_004006.3(DMD):c.10108C>T (p.Arg3370Ter) AND multiple conditions	ClinVar	Detail
NM_004006.3(DMD):c.10108C>T (p.Arg3370Ter) AND multiple conditions	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	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: rs104894787 dbSNP
Genome: hg38
Position: chrX:31,178,784-31,178,784
Variant Type: snv
Reference Allele: G
Alternative Allele: A

Genome browser

chrX:31178784:G>A Detail (hg38) (DMD)

Genome

HGVS

MGeND

Frequency

Prediction

ClinVar

Image provided by the submitter

Annotations

Overlapped Transcript Coordinates

Overlapped Transcript