chrX:31929747:T>C Detail (hg38) (DMD)

Information

Genome

Assembly Position
hg19 chrX:31,947,864-31,947,864 View the variant detail on this assembly version.
hg38 chrX:31,929,747-31,929,747

HGVS

Type Transcript Protein
RefSeq NM_000109.3:c.6763-2A>G
NM_004006.2:c.6763-2A>G
NM_004022.2:c.-618-2A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely 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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2021-12-20 criteria provided, single submitter not provided germline Detail
Likely pathogenic 2023-09-19 criteria provided, single submitter Duchenne muscular dystrophy germline Detail
Likely pathogenic 2021-10-17 criteria provided, single submitter Duchenne muscular dystrophy,dilated cardiomyopathy 3B,Becker muscular dystrophy unknown Detail
Likely pathogenic 2021-10-17 criteria provided, single submitter Duchenne muscular dystrophy,dilated cardiomyopathy 3B,Becker muscular dystrophy unknown Detail
Likely pathogenic 2021-10-17 criteria provided, single submitter Duchenne muscular dystrophy,dilated cardiomyopathy 3B,Becker muscular dystrophy unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.372 Dmd-Associated Dilated Cardiomyopathy NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004006.3(DMD):c.6763-2A>G AND not provided ClinVar Detail
NM_004006.3(DMD):c.6763-2A>G AND Duchenne muscular dystrophy ClinVar Detail
NM_004006.3(DMD):c.6763-2A>G AND multiple conditions ClinVar Detail
NM_004006.3(DMD):c.6763-2A>G AND multiple conditions ClinVar Detail
NM_004006.3(DMD):c.6763-2A>G AND multiple conditions ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs398124033 dbSNP
Genome
hg38
Position
chrX:31,929,747-31,929,747
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Genome browser