rs112754560 Rat Genome Database

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Variant: rs112754560 -  Homo sapiens

RGD ID: 28879902
RS ID: rs112754560
ClinVar ID: CV903007
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DMD  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 31,139,001
GRCh38 X 31,120,884
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004014.3:c.*1035A>G
NM_004020.4:c.*1035A>G
NM_004021.3:c.*949A>G
NM_004011.4:c.*1035A>G
More... 		01/12/2018 3 prime utr variant likely benign CARDIOMYOPATHY, DILATED, X-LINKED; CMD3B: DMD-Related Dilated Cardiomyopathy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DMD
Accession:NM_004009
Location:3UTRS;EXON

Gene Symbol:DMD
Accession:NM_004020
Location:3UTRS;EXON

Gene Symbol:DMD
Accession:NM_004015
Location:3UTRS;EXON

Gene Symbol:DMD
Accession:XM_006724475
Location:3UTRS;EXON

Gene Symbol:DMD
Accession:XM_006724468
Location:3UTRS;EXON

Gene Symbol:DMD
Accession:NM_004012
Location:3UTRS;EXON

Gene Symbol:DMD
Accession:NM_004017
Location:3UTRS;EXON

Gene Symbol:DMD
Accession:NM_004010
Location:3UTRS;EXON

Gene Symbol:DMD
Accession:NM_004014
Location:3UTRS;EXON

Gene Symbol:DMD
Accession:NM_004021
Location:3UTRS;EXON

Gene Symbol:DMD
Accession:XM_006724470
Location:3UTRS;EXON

Gene Symbol:DMD
Accession:XM_017029328
Location:3UTRS;EXON

Gene Symbol:DMD
Accession:NM_000109
Location:3UTRS;EXON

Gene Symbol:DMD
Accession:NM_004016
Location:3UTRS;EXON

Gene Symbol:DMD
Accession:XM_006724469
Location:3UTRS;EXON

Gene Symbol:DMD
Accession:NM_004006
Location:3UTRS;EXON

Gene Symbol:DMD
Accession:NM_004023
Location:3UTRS;EXON

Gene Symbol:DMD
Accession:NM_004022
Location:3UTRS;EXON

Gene Symbol:DMD
Accession:XM_006724473
Location:3UTRS;EXON

Gene Symbol:DMD
Accession:NM_004011
Location:3UTRS;EXON

Gene Symbol:DMD
Accession:NM_004013
Location:3UTRS;EXON

Gene Symbol:DMD
Accession:XM_011545467
Location:3UTRS;EXON

Gene Symbol:DMD
Accession:NM_004018
Location:3UTRS;EXON

Gene Symbol:DMD
Accession:XM_006724474
Location:3UTRS;EXON

Gene Symbol:DMD
Accession:XM_011545469
Location:INTRON

Gene Symbol:DMD
Accession:NM_004019
Location:INTRON

Gene Symbol:DMD
Accession:XM_011545468
Location:INTRON

Gene Symbol:DMD
Accession:XM_017029330
Location:INTRON

Gene Symbol:DMD
Accession:XM_017029329
Location:INTRON

Gene Symbol:DMD
Accession:XM_047441889
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001167169 CLINVAR
dbSNP (RS) rs112754560 CLINVAR
MedGen C3668940 CLINVAR
NCBI Gene DMD CLINVAR
OMIM 300377 CLINVAR
  302045 CLINVAR