RGD:405224837 Rat Genome Database

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Variant: RGD:405224837 -  Homo sapiens

RGD ID: 405224837
ClinVar ID: CV2885534
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PIGY  PYURF  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 4 89,442,895
GRCh38 4 88,521,744
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_032906.5:c.*144T>C
NM_001042616.3:c.46T>C
NG_046719.1:g.7058T>C
NC_000004.12:g.88521744A>G
More... 		04/20/2023 3 prime utr variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:PYURF
Accession:NM_032906
Location:3UTRS;EXON

Gene Symbol:PIGY
Accession:NM_001042616
Location:EXON
Amino Acid Prediction: S to A (nonsynonymous)
Amino Acid Position: 16
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFLSLPTLTVLIPLVALAGLFYSASVEENFPQGCTSTASLCFYSLLLPITIPVYVFFHLWTWMGIKLFRHN*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003554429 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PIGY CLINVAR
  PYURF CLINVAR
OMIM 610662 CLINVAR
  619956 CLINVAR