RGD:8595043 Rat Genome Database

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Variant: RGD:8595043 -  Homo sapiens

RGD ID: 8595043
RS ID: rs62514891
ClinVar ID: CV15625
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PAH  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 103,310,908
GRCh38 12 102,917,130
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000012.12:g.102917130T>C
NC_000012.11:g.103310908T>C
NP_000268.1:p.Met1Val
NP_001341233.1:p.Met1Val
More... 		01/06/2020 initiatior codon variant|initiator_codon_variant|missense|missense variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided neonatal/infancy 1-9 / 100 000 Folling disease; Hyperphenylalaninaemia; Hyperphenylalaninemia, non-pku; none provided; Oligophrenia phenylpyruvica; Phenylketonurias
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:PAH
Accession:XM_017019370
Location:EXON

Gene Symbol:PAH
Accession:NM_001354304
Location:EXON

Gene Symbol:PAH
Accession:NM_000277
Location:EXON

Variant Samples
Additional References at PubMed
PMID:1301193   PMID:1301201   PMID:1609797   PMID:2574002   PMID:9450897   PMID:9634518   PMID:9781015   PMID:17924342   PMID:24941924   PMID:26666653   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000000616 CLINVAR
  RCV000000617 CLINVAR
  RCV000088868 CLINVAR
dbSNP (RS) rs62514891 CLINVAR
MedGen C0031485 CLINVAR
  C0751435 CLINVAR
  C3661900 CLINVAR
NCBI Gene PAH CLINVAR
OMIM 261600 CLINVAR
  612349 CLINVAR
OMIM Allele 612349.0009 CLINVAR
SNOMED CT 68528007 CLINVAR