RGD:13500652 Rat Genome Database

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Variant: RGD:13500652 -  Homo sapiens

RGD ID: 13500652
RS ID: rs182575709
ClinVar ID: CV471519
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DMD  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 32,479,520
GRCh38 X 32,461,403
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004009.3:c.3420+2036A>G
LRG_199t1:c.3432+2036A>G
LRG_199:g.883207A>G
NG_012232.1:g.883207A>G
More... 		06/03/2020 intron variant pathogenic|likely pathogenic Becker's muscular dystrophy; Benign pseudohypertrophic muscular dystrophy; Muscular dystrophy pseudohypertrophic progressive, Becker type; Muscular dystrophy, pseudohypertrophic progressive, Duchenne type; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DMD
Accession:XM_006724474
Location:INTRON

Gene Symbol:DMD
Accession:NM_004012
Location:INTRON

Gene Symbol:DMD
Accession:XM_006724473
Location:INTRON

Gene Symbol:DMD
Accession:NM_000109
Location:INTRON

Gene Symbol:DMD
Accession:XM_017029330
Location:INTRON

Gene Symbol:DMD
Accession:NM_004009
Location:INTRON

Gene Symbol:DMD
Accession:NM_004022
Location:INTRON

Gene Symbol:DMD
Accession:XM_006724469
Location:INTRON

Gene Symbol:DMD
Accession:NM_004011
Location:INTRON

Gene Symbol:DMD
Accession:NM_004017
Location:INTRON

Gene Symbol:DMD
Accession:NM_004016
Location:INTRON

Gene Symbol:DMD
Accession:NM_004023
Location:INTRON

Gene Symbol:DMD
Accession:NM_004021
Location:INTRON

Gene Symbol:DMD
Accession:XM_006724475
Location:INTRON

Gene Symbol:DMD
Accession:XM_011545467
Location:INTRON

Gene Symbol:DMD
Accession:XM_011545468
Location:INTRON

Gene Symbol:DMD
Accession:XM_017029328
Location:INTRON

Gene Symbol:DMD
Accession:NM_004010
Location:INTRON

Gene Symbol:DMD
Accession:NM_004013
Location:INTRON

Gene Symbol:DMD
Accession:XM_006724468
Location:INTRON

Gene Symbol:DMD
Accession:XM_011545469
Location:INTRON

Gene Symbol:DMD
Accession:NM_004006
Location:INTRON

Gene Symbol:DMD
Accession:NM_004014
Location:INTRON

Gene Symbol:DMD
Accession:XM_006724470
Location:INTRON

Gene Symbol:DMD
Accession:NM_004018
Location:INTRON

Gene Symbol:DMD
Accession:XM_047441889
Location:INTRON

Gene Symbol:DMD
Accession:NM_004020
Location:INTRON

Gene Symbol:DMD
Accession:XM_017029329
Location:INTRON

Gene Symbol:DMD
Accession:NM_004015
Location:INTRON

Gene Symbol:DMD
Accession:NM_004019
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:12754707   PMID:16770791   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000012039 CLINVAR
  RCV000537797 CLINVAR
  RCV001539084 CLINVAR
  RCV002341259 CLINVAR
  RCV003403252 CLINVAR
dbSNP (RS) rs182575709 CLINVAR
MedGen C0013264 CLINVAR
  C0917713 CLINVAR
  C3661900 CLINVAR
  CN230736 CLINVAR
NCBI Gene DMD CLINVAR
OMIM 300376 CLINVAR
  300377 CLINVAR
  310200 CLINVAR
OMIM Allele 300377.0081 CLINVAR
SNOMED CT 387732009 CLINVAR
  76670001 CLINVAR