chrX:32463438:C>T Detail (hg38) (DMD)

Information

Genome

Assembly Position
hg19 chrX:32,481,555-32,481,555 View the variant detail on this assembly version.
hg38 chrX:32,463,438-32,463,438

HGVS

Type Transcript Protein
RefSeq NM_000109.3:c.3432+1G>A
NM_004006.2:c.3432+1G>A
NM_004009.3:c.3420+1G>A
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
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 2019-09-03 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2023-12-09 criteria provided, multiple submitters, no conflicts Duchenne muscular dystrophy germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed 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

DescrptionSourceLinks
NM_004006.3(DMD):c.3432+1G>A AND not provided ClinVar Detail
NM_004006.3(DMD):c.3432+1G>A AND Duchenne muscular dystrophy ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs398123937 dbSNP
Genome
hg38
Position
chrX:32,463,438-32,463,438
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser