RGD:152142003 Rat Genome Database

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Variant: RGD:152142003 -  Homo sapiens

RGD ID: 152142003
RS ID: rs113640471
ClinVar ID: CV1538145
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DYSF  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 71,791,182
GRCh38 2 71,564,052
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_845t1:c.2356-6G>A
LRG_845t2:c.2410-6G>A
NM_001130976.2:c.2314-6G>A
NM_001130977.2:c.2314-6G>A
More... 		09/08/2021 intron variant likely benign 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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002219498 CLINVAR
dbSNP (RS) rs113640471 CLINVAR
MedGen C2931687 CLINVAR
NCBI Gene DYSF CLINVAR
OMIM 603009 CLINVAR