RGD:8648429 Rat Genome Database

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Variant: RGD:8648429 -  Homo sapiens

RGD ID: 8648429
RS ID: rs62514950
ClinVar ID: CV108582
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PAH  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 103,246,626
GRCh38 12 102,852,848
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.102852848C>T
NC_000012.11:g.103246626C>T
P00439:p.Arg270Lys
NG_008690.2:g.110563G>A
More... 		06/08/2020 missense|missense variant pathogenic|not provided 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:EXON
Amino Acid Prediction: R to K (nonsynonymous)
Amino Acid Position: 270
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFF
THLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQ
FADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGF
RLRPVAGLLSSRDFLGGLAFRVFHCTQYIKHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEK
LATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVR
NFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQKIK*

Gene Symbol:PAH
Accession:NM_000277
Location:EXON
Amino Acid Prediction: R to K (nonsynonymous)
Amino Acid Position: 270
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFF
THLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQ
FADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGF
RLRPVAGLLSSRDFLGGLAFRVFHCTQYIKHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEK
LATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVR
NFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQKIK*

Gene Symbol:PAH
Accession:XM_017019370
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:8528673   PMID:12173030   PMID:16545551   PMID:17935162   PMID:20082265   PMID:20187763   PMID:21871829   PMID:23500595   PMID:23856132   PMID:25453233   PMID:25741868   PMID:26467025  
PMID:26503515   PMID:26666653   PMID:27620137   PMID:28492532   PMID:31355225   PMID:33465300  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000089105 CLINVAR
  RCV000153632 CLINVAR
dbSNP (RS) rs62514950 CLINVAR
MedGen C0031485 CLINVAR
  C3661900 CLINVAR
NCBI Gene PAH CLINVAR
OMIM 261600 CLINVAR
  612349 CLINVAR