RGD:28910691 Rat Genome Database

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Variant: RGD:28910691 -  Homo sapiens

RGD ID: 28910691
RS ID: rs1878260066
ClinVar ID: CV861008
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PAH  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 103,306,679
GRCh38 12 102,912,901
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.61-3T>C
NM_001354304.2:c.61-3T>C
NG_008690.2:g.50510T>C
NC_000012.12:g.102912901A>G
More... 		11/22/2019 intron variant uncertain significance 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:26503515   PMID:28982351  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001093525 CLINVAR
dbSNP (RS) rs1878260066 CLINVAR
MedGen C0031485 CLINVAR
NCBI Gene PAH CLINVAR
OMIM 261600 CLINVAR
  612349 CLINVAR