RGD:126732822 Rat Genome Database

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Variant: RGD:126732822 -  Homo sapiens

RGD ID: 126732822
RS ID: rs1289453214
ClinVar ID: CV1024700
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DYSF  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 71,892,440
GRCh38 2 71,665,310
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001130978.2:c.5263+6C>G
NM_001130981.2:c.5314+6C>G
NM_001130987.2:c.5317+6C>G
LRG_845:g.216688C>G
More... 		08/10/2020 intron variant uncertain significance 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:DYSF
Accession:NM_001130979
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130981
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130980
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130978
Location:INTRON

Gene Symbol:DYSF
Accession:NM_003494
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130977
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130976
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130982
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130987
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130985
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130983
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130455
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130984
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130986
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001349669 CLINVAR
  RCV001825953 CLINVAR
dbSNP (RS) rs1289453214 CLINVAR
MedGen C1850889 CLINVAR
  C2931687 CLINVAR
NCBI Gene DYSF CLINVAR
OMIM 253601 CLINVAR
  603009 CLINVAR