RGD:8648300 Rat Genome Database

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Variant: RGD:8648300 -  Homo sapiens

RGD ID: 8648300
RS ID: rs199475613
ClinVar ID: CV108452
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PAH  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 103,249,109
GRCh38 12 102,855,331
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000012.12:g.102855331C>T
NC_000012.11:g.103249109C>T
NP_000268.1:p.Gly171Arg
P00439:p.Gly171Arg
More... 		08/10/2018 missense|missense variant likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided Folling disease; none provided; Oligophrenia phenylpyruvica; Phenylketonurias
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PAH
Accession:NM_000277
Location:EXON

Gene Symbol:PAH
Accession:XM_017019370
Location:EXON

Gene Symbol:PAH
Accession:NM_001354304
Location:EXON

Variant Samples
Additional References at PubMed
PMID:10527663   PMID:23430918   PMID:26600521   PMID:28492532   PMID:28982351  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000088964 CLINVAR
  RCV000560269 CLINVAR
dbSNP (RS) rs199475613 CLINVAR
MedGen C0031485 CLINVAR
  C3661900 CLINVAR
NCBI Gene PAH CLINVAR
OMIM 261600 CLINVAR
  612349 CLINVAR