RGD:8641338 Rat Genome Database

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Variant: RGD:8641338 -  Homo sapiens

RGD ID: 8641338
RS ID: rs398123828
ClinVar ID: CV100322
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DMD  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 31,198,486
GRCh38 X 31,180,369
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_199t1:c.10086+1G>A
LRG_199:g.2164241G>A
NG_012232.1:g.2164241G>A
NC_000023.11:g.31180369C>T
More... 		04/01/2020 splice donor variant|splice-5 pathogenic all ages|childhood|variable 1-5 / 10 000|1-9 / 100 000 CARDIOMYOPATHY, DILATED, X-LINKED; CMD3B: DMD-Related Dilated Cardiomyopathy; Muscular dystrophy, pseudohypertrophic progressive, Duchenne type; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DMD
Accession:NM_004021
Location:INTRON

Gene Symbol:DMD
Accession:NM_004023
Location:INTRON

Gene Symbol:DMD
Accession:NM_004019
Location:INTRON

Gene Symbol:DMD
Accession:NM_004014
Location:INTRON

Gene Symbol:DMD
Accession:NM_004020
Location:INTRON

Gene Symbol:DMD
Accession:NM_004013
Location:INTRON

Gene Symbol:DMD
Accession:NM_004009
Location:INTRON

Gene Symbol:DMD
Accession:NM_004018
Location:INTRON

Gene Symbol:DMD
Accession:XM_011545467
Location:INTRON

Gene Symbol:DMD
Accession:XM_011545469
Location:INTRON

Gene Symbol:DMD
Accession:XM_017029328
Location:INTRON

Gene Symbol:DMD
Accession:NM_004015
Location:INTRON

Gene Symbol:DMD
Accession:XM_006724473
Location:INTRON

Gene Symbol:DMD
Accession:XM_006724474
Location:INTRON

Gene Symbol:DMD
Accession:XM_047441889
Location:INTRON

Gene Symbol:DMD
Accession:XM_006724475
Location:INTRON

Gene Symbol:DMD
Accession:XM_006724468
Location:INTRON

Gene Symbol:DMD
Accession:XM_006724470
Location:INTRON

Gene Symbol:DMD
Accession:NM_004012
Location:INTRON

Gene Symbol:DMD
Accession:NM_004017
Location:INTRON

Gene Symbol:DMD
Accession:NM_004016
Location:INTRON

Gene Symbol:DMD
Accession:XM_017029329
Location:INTRON

Gene Symbol:DMD
Accession:NM_000109
Location:INTRON

Gene Symbol:DMD
Accession:NM_004006
Location:INTRON

Gene Symbol:DMD
Accession:NM_004011
Location:INTRON

Gene Symbol:DMD
Accession:NM_004022
Location:INTRON

Gene Symbol:DMD
Accession:XM_011545468
Location:INTRON

Gene Symbol:DMD
Accession:XM_017029330
Location:INTRON

Gene Symbol:DMD
Accession:XM_006724469
Location:INTRON

Gene Symbol:DMD
Accession:NM_004010
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:7581396   PMID:8589698   PMID:16199547   PMID:16770791   PMID:19937601   PMID:25007885   PMID:25741868   PMID:28492532   PMID:32194622  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000080405 CLINVAR
  RCV001196295 CLINVAR
  RCV003512011 CLINVAR
dbSNP (RS) rs398123828 CLINVAR
MedGen C0013264 CLINVAR
  C3661900 CLINVAR
  C3668940 CLINVAR
NCBI Gene DMD CLINVAR
OMIM 300377 CLINVAR
  302045 CLINVAR
  310200 CLINVAR
SNOMED CT 76670001 CLINVAR