RGD:15158239 Rat Genome Database

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Variant: RGD:15158239 -  Homo sapiens

RGD ID: 15158239
RS ID: rs142572881
ClinVar ID: CV743705
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CA14  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 150,236,189
GRCh38 1 150,263,790
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_012113.3:c.863-4C>T
NG_029952.1:g.10421G>A
NC_000001.11:g.150263790C>T
NC_000001.10:g.150236189C>T
More... 		06/23/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CA14
Accession:XM_017000894
Location:INTRON

Gene Symbol:CA14
Accession:XM_005245059
Location:INTRON

Gene Symbol:CA14
Accession:NM_012113
Location:INTRON

Gene Symbol:CA14
Accession:XM_005245060
Location:INTRON

Gene Symbol:CA14
Accession:XM_011509379
Location:INTRON

Gene Symbol:CA14
Accession:XM_006711261
Location:INTRON

Gene Symbol:CA14
Accession:XM_006711259
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000902693 CLINVAR
dbSNP (RS) rs142572881 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CA14 CLINVAR
OMIM 604832 CLINVAR