RGD:13809241 Rat Genome Database

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Variant: RGD:13809241 -  Homo sapiens

RGD ID: 13809241
RS ID: rs1209389771
ClinVar ID: CV577963
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DMD  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 32,472,778
GRCh38 X 32,454,661
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.3603+1G>T
LRG_199t1:c.3603+1G>T
LRG_199:g.889949G>T
NG_012232.1:g.889949G>T
More... 		05/28/2019 splice donor variant pathogenic|likely benign 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_004010
Location:INTRON

Gene Symbol:DMD
Accession:NM_004012
Location:INTRON

Gene Symbol:DMD
Accession:NM_004020
Location:INTRON

Gene Symbol:DMD
Accession:NM_004015
Location:INTRON

Gene Symbol:DMD
Accession:XM_006724468
Location:INTRON

Gene Symbol:DMD
Accession:NM_000109
Location:INTRON

Gene Symbol:DMD
Accession:XM_006724474
Location:INTRON

Gene Symbol:DMD
Accession:NM_004011
Location:INTRON

Gene Symbol:DMD
Accession:XM_011545467
Location:INTRON

Gene Symbol:DMD
Accession:NM_004006
Location:INTRON

Gene Symbol:DMD
Accession:NM_004018
Location:INTRON

Gene Symbol:DMD
Accession:NM_004019
Location:INTRON

Gene Symbol:DMD
Accession:XM_011545468
Location:INTRON

Gene Symbol:DMD
Accession:XM_047441889
Location:INTRON

Gene Symbol:DMD
Accession:XM_017029330
Location:INTRON

Gene Symbol:DMD
Accession:XM_017029329
Location:INTRON

Gene Symbol:DMD
Accession:NM_004017
Location:INTRON

Gene Symbol:DMD
Accession:XM_006724473
Location:INTRON

Gene Symbol:DMD
Accession:NM_004009
Location:INTRON

Gene Symbol:DMD
Accession:NM_004013
Location:INTRON

Gene Symbol:DMD
Accession:XM_006724469
Location:INTRON

Gene Symbol:DMD
Accession:XM_006724475
Location:INTRON

Gene Symbol:DMD
Accession:XM_006724470
Location:INTRON

Gene Symbol:DMD
Accession:XM_011545469
Location:INTRON

Gene Symbol:DMD
Accession:NM_004021
Location:INTRON

Gene Symbol:DMD
Accession:NM_004023
Location:INTRON

Gene Symbol:DMD
Accession:NM_004022
Location:INTRON

Gene Symbol:DMD
Accession:NM_004016
Location:INTRON

Gene Symbol:DMD
Accession:NM_004014
Location:INTRON

Gene Symbol:DMD
Accession:XM_017029328
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:10464635   PMID:16199547   PMID:16770791   PMID:19937601   PMID:23536893   PMID:24505439   PMID:25007885   PMID:26467025   PMID:28492532   PMID:28859693  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000711454 CLINVAR
  RCV000990682 CLINVAR
dbSNP (RS) rs1209389771 CLINVAR
MedGen C0013264 CLINVAR
  C3661900 CLINVAR
NCBI Gene DMD CLINVAR
OMIM 300377 CLINVAR
  310200 CLINVAR
SNOMED CT 76670001 CLINVAR