RGD:28910684 Rat Genome Database

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Variant: RGD:28910684 -  Homo sapiens

RGD ID: 28910684
RS ID: rs62508684
ClinVar ID: CV860996
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PAH  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 103,237,558
GRCh38 12 102,843,780
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000277.3:c.1066-1G>T
NM_001354304.2:c.1066-1G>T
NG_008690.2:g.119631G>T
NC_000012.12:g.102843780C>A
More... 		10/18/2019 splice acceptor variant pathogenic Folling disease; Oligophrenia phenylpyruvica; Phenylketonurias
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:PAH
Accession:NM_001354304
Location:INTRON

Gene Symbol:PAH
Accession:NM_000277
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:1301187   PMID:9634518   PMID:12655550   PMID:16199547   PMID:26322415   PMID:26503515   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001093523 CLINVAR
dbSNP (RS) rs62508684 CLINVAR
MedGen C0031485 CLINVAR
NCBI Gene PAH CLINVAR
OMIM 261600 CLINVAR
  612349 CLINVAR