rs137905486 Rat Genome Database

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Variant: rs137905486 -  Homo sapiens

RGD ID: 11639908
RS ID: rs137905486
ClinVar ID: CV271146
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DMD  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 31,341,774
GRCh38 X 31,323,657
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004006.2:c.9165G>A
LRG_199t1:c.9165G>A
LRG_199:g.2020953G>A
NG_012232.1:g.2020953G>A
More... 		08/13/2020 synonymous variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; Becker's muscular dystrophy; Benign pseudohypertrophic muscular dystrophy; Cardiomyopathies; Cardiomyopathy; DMD-related condition; Duchenne muscular dystrophy; Dystrophin deficiency; Muscular dystrophy pseudohypertrophic progressive, Becker type; Muscular dystrophy, pseudohypertrophic progressive, Duchenne type; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Cardiomyopathy  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:DMD
Accession:XM_006724469
Location:EXON

Gene Symbol:DMD
Accession:NM_004012
Location:EXON

Gene Symbol:DMD
Accession:NM_000109
Location:EXON

Gene Symbol:DMD
Accession:NM_004023
Location:EXON

Gene Symbol:DMD
Accession:NM_004006
Location:EXON

Gene Symbol:DMD
Accession:XM_006724468
Location:EXON

Gene Symbol:DMD
Accession:NM_004011
Location:EXON

Gene Symbol:DMD
Accession:NM_004020
Location:EXON

Gene Symbol:DMD
Accession:NM_004022
Location:EXON

Gene Symbol:DMD
Accession:NM_004014
Location:EXON

Gene Symbol:DMD
Accession:NM_004021
Location:EXON

Gene Symbol:DMD
Accession:XM_011545468
Location:EXON

Gene Symbol:DMD
Accession:XM_017029328
Location:EXON

Gene Symbol:DMD
Accession:NM_004013
Location:EXON

Gene Symbol:DMD
Accession:XM_006724473
Location:EXON

Gene Symbol:DMD
Accession:XM_011545467
Location:EXON

Gene Symbol:DMD
Accession:XM_006724470
Location:EXON

Gene Symbol:DMD
Accession:NM_004010
Location:EXON

Gene Symbol:DMD
Accession:NM_004009
Location:EXON

Gene Symbol:DMD
Accession:XM_006724474
Location:EXON

Gene Symbol:DMD
Accession:XM_006724475
Location:EXON

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_004018
Location:INTRON

Gene Symbol:DMD
Accession:XM_017029330
Location:INTRON

Gene Symbol:DMD
Accession:NM_004019
Location:INTRON

Gene Symbol:DMD
Accession:XM_047441889
Location:INTRON

Gene Symbol:DMD
Accession:XM_011545469
Location:INTRON

Gene Symbol:DMD
Accession:NM_004015
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000329066 CLINVAR
  RCV000622128 CLINVAR
  RCV000725916 CLINVAR
  RCV001080762 CLINVAR
  RCV001835758 CLINVAR
  RCV004543092 CLINVAR
dbSNP (RS) rs137905486 CLINVAR
MedGen C0013264 CLINVAR
  C0917713 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
  CN230736 CLINVAR
NCBI Gene DMD CLINVAR
OMIM 300376 CLINVAR
  300377 CLINVAR
  310200 CLINVAR
SNOMED CT 387732009 CLINVAR
  76670001 CLINVAR