RGD:150451502 Rat Genome Database

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Variant: RGD:150451502 -  Homo sapiens

RGD ID: 150451502
RS ID: rs594141
ClinVar ID: CV1232811
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PAX4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 127,254,457
GRCh38 7 127,614,403
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000007.14:g.127614403G>A
NC_000007.13:g.127254457G>A
NM_001366110.1:c.436+79C>T
NM_001366111.1:c.436+79C>T
More...
08/09/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PAX4
Accession:NM_001366111
Location:INTRON

Gene Symbol:PAX4
Accession:NM_001366110
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001647886 CLINVAR
dbSNP (RS) rs594141 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PAX4 CLINVAR
OMIM 167413 CLINVAR