RGD:8649315 Rat Genome Database

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Variant: RGD:8649315 -  Homo sapiens

RGD ID: 8649315
RS ID: rs199475698
ClinVar ID: CV125869
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC124902999  PAH  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 103,271,234
GRCh38 12 102,877,456
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.102877456A>T
NC_000012.11:g.103271234A>T
NG_008690.2:g.85955T>A
NM_000277.1:c.441+6T>A
More... 		05/31/2023 intron|intron variant likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance neonatal/infancy 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_001354304
Location:INTRON

Gene Symbol:PAH
Accession:NM_000277
Location:INTRON

Gene Symbol:PAH
Accession:XM_017019370
Location:INTRON

Gene Symbol:LOC124902999
Accession:XR_007063428
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:22526846   PMID:23357515   PMID:25741868   PMID:26467025   PMID:28492532   PMID:32668217  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000106356 CLINVAR
  RCV001563425 CLINVAR
dbSNP (RS) rs199475698 CLINVAR
MedGen C0031485 CLINVAR
  C3661900 CLINVAR
NCBI Gene PAH CLINVAR
OMIM 261600 CLINVAR
  612349 CLINVAR