RGD:405212808 Rat Genome Database

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Variant: RGD:405212808 -  Homo sapiens

RGD ID: 405212808
ClinVar ID: CV2878743
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AGPS  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 178,299,164
GRCh38 2 177,434,436
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003659.4:c.441+19T>A
NG_008968.1:g.46694T>A
NC_000002.12:g.177434436T>A
NC_000002.11:g.178299164T>A
 01/25/2024 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:AGPS
Accession:NM_003659
Location:INTRON

Gene Symbol:AGPS
Accession:XM_011512041
Location:INTRON

Gene Symbol:AGPS
Accession:XM_047446105
Location:INTRON

Gene Symbol:AGPS
Accession:XM_047446104
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003552813 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene AGPS CLINVAR
OMIM 603051 CLINVAR