RGD:405226193 Rat Genome Database

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Variant: RGD:405226193 -  Homo sapiens

RGD ID: 405226193
ClinVar ID: CV3142485
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PHYH  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 13,320,368
GRCh38 10 13,278,368
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001037537.2:c.664-14G>C
NM_001323080.2:c.664-14G>C
NM_001323084.2:c.670-14G>C
NM_001323083.2:c.700-14G>C
More...
01/23/2023 intron variant likely benign none provided

Variant Details
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003848024 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PHYH CLINVAR
OMIM 602026 CLINVAR