RGD:8641213 Rat Genome Database

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Variant: RGD:8641213 -  Homo sapiens

RGD ID: 8641213
RS ID: rs3764971
ClinVar ID: CV100197
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DYSF  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 71,797,712
GRCh38 2 71,570,582
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008694.1:g.121960G>A
NC_000002.12:g.71570582G>A
NC_000002.11:g.71797712G>A
NM_001130976.2:c.2990-17G>A
More... 		07/30/2021 intron variant benign AllHighlyPenetrant; Dysferlinopathy; Limb-girdle muscular dystrophy, type 2B; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2; Muscular dystrophy, limb-girdle, type 3

Variant Details
Variant Transcripts
Gene Symbol:DYSF
Accession:NM_001130978
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130987
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130981
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130984
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130985
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130979
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130977
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130983
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130455
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130986
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130982
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130980
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:DYSF
Accession:NM_003494
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130976
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000080262 CLINVAR
  RCV001527219 CLINVAR
  RCV001664340 CLINVAR
  RCV001664341 CLINVAR
  RCV002055162 CLINVAR
dbSNP (RS) rs3764971 CLINVAR
MedGen C1847532 CLINVAR
  C1850889 CLINVAR
  C2931687 CLINVAR
  C4551973 CLINVAR
  CN169374 CLINVAR
NCBI Gene DYSF CLINVAR
OMIM 253601 CLINVAR
  254130 CLINVAR
  603009 CLINVAR
  606768 CLINVAR