RGD:15154539 Rat Genome Database

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Variant: RGD:15154539 -  Homo sapiens

RGD ID: 15154539
RS ID: rs2464195
ClinVar ID: CV760142
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HNF1A  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 121,435,475
GRCh38 12 120,997,672
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000012.11:g.121435475G>C
NM_000545.5:c.1501+7G>C
NM_000545.8:c.1501+7G>C
NM_001306179.2:c.1501+7G>C
More... 		04/06/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:HNF1A
Accession:NM_001406915
Location:INTRON

Gene Symbol:HNF1A
Accession:NM_000545
Location:INTRON

Gene Symbol:HNF1A
Accession:NM_001306179
Location:INTRON

Gene Symbol:HNF1A
Accession:XM_024449168
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000924279 CLINVAR
dbSNP (RS) rs2464195 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene HNF1A CLINVAR
OMIM 142410 CLINVAR