RGD:13784768 Rat Genome Database

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Variant: RGD:13784768 -  Homo sapiens

RGD ID: 13784768
RS ID: rs1474151297
ClinVar ID: CV542105
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DYSF  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 71,838,757
GRCh38 2 71,611,627
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000002.12:g.71611627G>C
NC_000002.11:g.71838757G>C
NG_008694.1:g.163005G>C
NM_001130985.2:c.4221+1G>C
More... 		12/05/2017 splice donor variant pathogenic Dysferlinopathy; Limb-girdle muscular dystrophy, type 2B; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2; Muscular dystrophy, limb-girdle, type 3
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:DYSF
Accession:NM_001130979
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130984
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130977
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130986
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130982
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130983
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130976
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130987
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130978
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130455
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130981
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130985
Location:INTRON

Gene Symbol:DYSF
Accession:NM_003494
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130980
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:17698709   PMID:18832576   PMID:18853459   PMID:20301480   PMID:27647186   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000671253 CLINVAR
  RCV002531273 CLINVAR
dbSNP (RS) rs1474151297 CLINVAR
MedGen C1850889 CLINVAR
  C2931687 CLINVAR
NCBI Gene DYSF CLINVAR
OMIM 253601 CLINVAR
  603009 CLINVAR