RGD:156151965 Rat Genome Database

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Variant: RGD:156151965 -  Homo sapiens

RGD ID: 156151965
ClinVar ID: CV1961076
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TOR1AIP1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 179,870,540
GRCh38 1 179,901,405
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_015602.4:c.739+17T>C
NM_001267578.2:c.742+17T>C
NG_042316.1:g.24364T>C
NC_000001.11:g.179901405T>C
More... 		06/27/2022 intron variant likely benign Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures; Muscular dystrophy, limb-girdle, type 2y
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TOR1AIP1
Accession:NM_015602
Location:INTRON

Gene Symbol:TOR1AIP1
Accession:NM_001267578
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002572927 CLINVAR
MedGen C4511482 CLINVAR
NCBI Gene TOR1AIP1 CLINVAR
OMIM 614512 CLINVAR
  617072 CLINVAR