RGD:8648142 Rat Genome Database

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Variant: RGD:8648142 -  Homo sapiens

RGD ID: 8648142
RS ID: rs62508613
ClinVar ID: CV108291
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PAH  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 103,237,407
GRCh38 12 102,843,629
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NC_000012.12:g.102843629C>T
NC_000012.11:g.103237407C>T
NG_008690.2:g.119782G>A
NM_000277.2:c.1199+17G>A
More... 		04/17/2018 intron|intron variant pathogenic|likely pathogenic|not provided 1-9 / 100 000 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:INTRON

Gene Symbol:PAH
Accession:NM_001354304
Location:INTRON

Gene Symbol:PAH
Accession:XM_017019370
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:11139255   PMID:11180595   PMID:23942198   PMID:25741868   PMID:28492532   PMID:29684050   PMID:30829006  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000088789 CLINVAR
  RCV000316500 CLINVAR
dbSNP (RS) rs62508613 CLINVAR
MedGen C0031485 CLINVAR
  C3661900 CLINVAR
NCBI Gene PAH CLINVAR
OMIM 261600 CLINVAR
  612349 CLINVAR