RGD:13828940 Rat Genome Database

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Variant: RGD:13828940 -  Homo sapiens

RGD ID: 13828940
RS ID: rs144839897
ClinVar ID: CV579410
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CA8  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 61,139,427
GRCh38 8 60,226,868
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001321838.2:c.576+5G>A
NM_004056.6:c.576+5G>A
NG_023193.2:g.59528G>A
NC_000008.11:g.60226868C>T
More... 		12/26/2018 intron variant benign|likely benign none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CA8
Accession:NM_004056
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:CA8
Accession:NM_001321837
Location:INTRON

Gene Symbol:CA8
Accession:NM_001321838
Location:INTRON

Gene Symbol:CA8
Accession:NM_001321839
Location:INTRON

Gene Symbol:CA8
Accession:NR_135821
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000967088 CLINVAR
  RCV002316177 CLINVAR
dbSNP (RS) rs144839897 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
NCBI Gene CA8 CLINVAR
OMIM 114815 CLINVAR