RGD:156339703 Rat Genome Database

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Variant: RGD:156339703 -  Homo sapiens

RGD ID: 156339703
ClinVar ID: CV1974009
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CORO1A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 30,199,422
GRCh38 16 30,188,101
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001193333.3:c.1007+14G>A
NM_007074.4:c.1007+14G>A
LRG_195:g.9497G>A
NG_023415.1:g.9497G>A
More... 		09/27/2022 intron variant likely benign Immunodeficiency 8; IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CORO1A
Accession:NM_001193333
Location:INTRON

Gene Symbol:CORO1A
Accession:NM_007074
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002601214 CLINVAR
MedGen C3809383 CLINVAR
NCBI Gene CORO1A CLINVAR
OMIM 605000 CLINVAR
  615401 CLINVAR