RGD:38464927 Rat Genome Database

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Variant: RGD:38464927 -  Homo sapiens

RGD ID: 38464927
RS ID: rs2082833010
ClinVar ID: CV961663
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DYSF  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 71,708,069
GRCh38 2 71,480,939
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001130977.2:c.144+1G>A
NM_001130978.2:c.144+1G>A
NM_001130979.2:c.144+1G>A
NM_001130981.2:c.144+1G>A
More... 		03/06/2020 splice donor variant pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset; 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_001130980
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130977
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130982
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130455
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130985
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130978
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130976
Location:INTRON

Gene Symbol:DYSF
Accession:NM_003494
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130987
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130979
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130981
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130983
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130984
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130986
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:17698709   PMID:20301480   PMID:25741868   PMID:27347015   PMID:27647186   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001249863 CLINVAR
  RCV003574861 CLINVAR
dbSNP (RS) rs2082833010 CLINVAR
MedGen C2931687 CLINVAR
  C4551973 CLINVAR
NCBI Gene DYSF CLINVAR
OMIM 253601 CLINVAR
  254130 CLINVAR
  603009 CLINVAR
  606768 CLINVAR