RGD:8648163 Rat Genome Database

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Variant: RGD:8648163 -  Homo sapiens

RGD ID: 8648163
RS ID: rs62644467
ClinVar ID: CV108312
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PAH  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 103,234,256
GRCh38 12 102,840,478
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000012.12:g.102840478G>A
NC_000012.11:g.103234256G>A
NP_000268.1:p.Arg413Cys
NG_008690.2:g.122933C>T
More...
03/20/2023 missense|missense variant uncertain significance|not provided 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 C (nonsynonymous)
Amino Acid Position: 413
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFF
THLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQ
FADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGF
RLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEK
LATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVR
NFAATIPRPFSVCYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQKIK*

Gene Symbol:PAH
Accession:NM_000277
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 413
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFF
THLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQ
FADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGF
RLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEK
LATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVR
NFAATIPRPFSVCYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQKIK*

Gene Symbol:PAH
Accession:XM_017019370
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:17935162   PMID:21953985   PMID:24401910   PMID:25741868   PMID:27264808   PMID:28492532   PMID:32668217  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000088812 CLINVAR
  RCV001269321 CLINVAR
  RCV003415874 CLINVAR
dbSNP (RS) rs62644467 CLINVAR
MedGen C0031485 CLINVAR
  C3661900 CLINVAR
NCBI Gene PAH CLINVAR
OMIM 261600 CLINVAR
  612349 CLINVAR