RGD:14712510 Rat Genome Database

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Variant: RGD:14712510 -  Homo sapiens

RGD ID: 14712510
ClinVar ID: CV671286
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POMGNT1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 46,662,534
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Clinical Significance Trait Synonyms
NM_017739.3:c.236-13T>C
NC_000001.11:g.46196862A>G
NC_000001.10:g.46662534A>G
06/04/2018 likely benign

Variant Details
Variant Transcripts
Gene Symbol:POMGNT1
Accession:NM_017739
Location:INTRON

Gene Symbol:POMGNT1
Accession:NM_001243766
Location:INTRON

Variant Samples