RGD:8595078 Rat Genome Database

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Variant: RGD:8595078 -  Homo sapiens

RGD ID: 8595078
RS ID: rs76212747
ClinVar ID: CV15671
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PAH  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 103,246,701
GRCh38 12 102,852,923
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NG_008690.2:g.110488T>C
NM_000277.1:c.734T>C
NC_000012.12:g.102852923A>G
NC_000012.11:g.103246701A>G
More... 		10/31/2018 missense variant pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided 1-9 / 100 000 Folling disease; Hyperphenylalaninaemia; Hyperphenylalaninemia, non-pku; none provided; Oligophrenia phenylpyruvica; Phenylketonurias
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:PAH
Accession:NM_001354304
Location:EXON
Amino Acid Prediction: V to A (nonsynonymous)
Amino Acid Position: 245
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFF
THLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQ
FADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGF
RLRPAAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEK
LATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVR
NFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQKIK*

Gene Symbol:PAH
Accession:NM_000277
Location:EXON
Amino Acid Prediction: V to A (nonsynonymous)
Amino Acid Position: 245
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFF
THLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQ
FADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGF
RLRPAAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEK
LATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVR
NFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQKIK*

Gene Symbol:PAH
Accession:XM_017019370
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:7981714   PMID:8088845   PMID:8406445   PMID:8659548   PMID:9298832   PMID:9634518   PMID:9781015   PMID:10394930   PMID:11161839   PMID:12501224   PMID:12655550   PMID:12655553  
PMID:15159646   PMID:16198137   PMID:17935162   PMID:23764561   PMID:24296287   PMID:24350308   PMID:25596310   PMID:25741868   PMID:26467025   PMID:26666653   PMID:26803807   PMID:27121329  
PMID:28492532   PMID:31164572  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000000664 CLINVAR
  RCV000089065 CLINVAR
  RCV000346938 CLINVAR
  RCV002512615 CLINVAR
dbSNP (RS) rs76212747 CLINVAR
MedGen C0031485 CLINVAR
  C0751435 CLINVAR
  C0950123 CLINVAR
  C3661900 CLINVAR
NCBI Gene PAH CLINVAR
OMIM 261600 CLINVAR
  612349 CLINVAR
OMIM Allele 612349.0059 CLINVAR
SNOMED CT 68528007 CLINVAR