RGD:151882784 Rat Genome Database

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Variant: RGD:151882784 -  Homo sapiens

RGD ID: 151882784
RS ID: rs2152855735
ClinVar ID: CV1364355
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DYSF  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 71,825,692
GRCh38 2 71,598,562
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003494.4:c.3521-2A>G
NM_001130455.2:c.3524-2A>G
NG_008694.1:g.149940A>G
NC_000002.12:g.71598562A>G
More... 		08/12/2021 splice acceptor variant pathogenic Dysferlinopathy
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:16199547   PMID:17698709   PMID:20301480   PMID:27647186   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001999911 CLINVAR
dbSNP (RS) rs2152855735 CLINVAR
MedGen C2931687 CLINVAR
NCBI Gene DYSF CLINVAR
OMIM 603009 CLINVAR