RGD:402475051 Rat Genome Database

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Variant: RGD:402475051 -  Homo sapiens

RGD ID: 402475051
ClinVar ID: CV3182723
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNPTG  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 1,412,437
GRCh38 16 1,362,436
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_032520.5:c.527-16T>C
NG_016985.1:g.15538T>C
NG_033129.1:g.57269A>G
NC_000016.10:g.1362436T>C
More... 		09/03/2023 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:GNPTG
Accession:NM_032520
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003874966 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GNPTG CLINVAR
OMIM 607838 CLINVAR