RGD:405050503 Rat Genome Database

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Variant: RGD:405050503 -  Homo sapiens

RGD ID: 405050503
ClinVar ID: CV2883263
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PHYH  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 13,325,848
GRCh38 10 13,283,848
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.379-9T>C
NM_001323080.2:c.379-9T>C
NM_001323084.2:c.385-9T>C
NM_001323083.2:c.415-9T>C
More... 		10/27/2023 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PHYH
Accession:NM_006214
Location:INTRON

Gene Symbol:PHYH
Accession:NM_001037537
Location:INTRON

Gene Symbol:PHYH
Accession:NM_001323083
Location:INTRON

Gene Symbol:PHYH
Accession:NM_001323082
Location:INTRON

Gene Symbol:PHYH
Accession:NM_001323084
Location:INTRON

Gene Symbol:PHYH
Accession:NM_001323080
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003579752 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PHYH CLINVAR
OMIM 602026 CLINVAR