RGD:405122829 Rat Genome Database

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Variant: RGD:405122829 -  Homo sapiens

RGD ID: 405122829
ClinVar ID: CV3046438
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RETREG1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 16,477,908
GRCh38 5 16,477,799
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_019000.5:c.451-11T>C
NM_001034850.3:c.874-11T>C
LRG_363:g.144211T>C
NG_016644.2:g.144211T>C
More... 		03/22/2023 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:RETREG1
Accession:XM_011514054
Location:INTRON

Gene Symbol:RETREG1
Accession:XM_011514053
Location:INTRON

Gene Symbol:RETREG1
Accession:XM_011514055
Location:INTRON

Gene Symbol:RETREG1
Accession:NM_001034850
Location:INTRON

Gene Symbol:RETREG1
Accession:NM_019000
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003724078 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene RETREG1 CLINVAR
OMIM 613114 CLINVAR