rs1569564916 Rat Genome Database

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Variant: rs1569564916 -  Homo sapiens

RGD ID: 8562272
RS ID: rs1569564916
ClinVar ID: CV26265
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DMD  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 32,519,869
GRCh38 X 32,501,752
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_199:g.842858A>C
LRG_199t1:c.2380+3A>C
NG_012232.1:g.842858A>C
NC_000023.11:g.32501752T>G
More... 		11/28/2012 intron variant pathogenic childhood 1-9 / 100 000 Becker's muscular dystrophy; Benign pseudohypertrophic muscular dystrophy; Muscular dystrophy pseudohypertrophic progressive, Becker type
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DMD
Accession:NM_004018
Location:INTRON

Gene Symbol:DMD
Accession:NM_004017
Location:INTRON

Gene Symbol:DMD
Accession:NM_004022
Location:INTRON

Gene Symbol:DMD
Accession:XM_006724470
Location:INTRON

Gene Symbol:DMD
Accession:XM_011545467
Location:INTRON

Gene Symbol:DMD
Accession:NM_004009
Location:INTRON

Gene Symbol:DMD
Accession:XM_006724474
Location:INTRON

Gene Symbol:DMD
Accession:NM_004010
Location:INTRON

Gene Symbol:DMD
Accession:XM_011545468
Location:INTRON

Gene Symbol:DMD
Accession:XM_017029330
Location:INTRON

Gene Symbol:DMD
Accession:NM_000109
Location:INTRON

Gene Symbol:DMD
Accession:NM_004023
Location:INTRON

Gene Symbol:DMD
Accession:XM_017029329
Location:INTRON

Gene Symbol:DMD
Accession:NM_004006
Location:INTRON

Gene Symbol:DMD
Accession:NM_004015
Location:INTRON

Gene Symbol:DMD
Accession:NM_004019
Location:INTRON

Gene Symbol:DMD
Accession:XM_017029328
Location:INTRON

Gene Symbol:DMD
Accession:NM_004012
Location:INTRON

Gene Symbol:DMD
Accession:NM_004014
Location:INTRON

Gene Symbol:DMD
Accession:XM_006724469
Location:INTRON

Gene Symbol:DMD
Accession:NM_004011
Location:INTRON

Gene Symbol:DMD
Accession:NM_004020
Location:INTRON

Gene Symbol:DMD
Accession:NM_004013
Location:INTRON

Gene Symbol:DMD
Accession:XM_006724475
Location:INTRON

Gene Symbol:DMD
Accession:NM_004016
Location:INTRON

Gene Symbol:DMD
Accession:NM_004021
Location:INTRON

Gene Symbol:DMD
Accession:XM_006724468
Location:INTRON

Gene Symbol:DMD
Accession:XM_011545469
Location:INTRON

Gene Symbol:DMD
Accession:XM_047441889
Location:INTRON

Gene Symbol:DMD
Accession:XM_006724473
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:1577476   PMID:1632439   PMID:8322822  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000011977 CLINVAR
dbSNP (RS) rs1569564916 CLINVAR
MedGen C0917713 CLINVAR
NCBI Gene DMD CLINVAR
OMIM 300376 CLINVAR
  300377 CLINVAR
OMIM Allele 300377.0018 CLINVAR
SNOMED CT 387732009 CLINVAR