RGD:8649300 Rat Genome Database

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Variant: RGD:8649300 -  Homo sapiens

RGD ID: 8649300
RS ID: rs281865435
ClinVar ID: CV125854
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PAH  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 103,237,460
GRCh38 12 102,843,682
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.102843682A>G
NC_000012.11:g.103237460A>G
NP_000268.1:p.Val388Ala
NG_008690.2:g.119729T>C
More... 		05/05/2019 missense|missense variant likely pathogenic neonatal/infancy 1-9 / 100 000 Folling disease; Oligophrenia phenylpyruvica; Phenylketonurias
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PAH
Accession:NM_000277
Location:EXON
Amino Acid Prediction: V to A (nonsynonymous)
Amino Acid Position: 388
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFF
THLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQ
FADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGF
RLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEK
LATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYAAESFNDAKEKVR
NFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQKIK*

Gene Symbol:PAH
Accession:NM_001354304
Location:EXON
Amino Acid Prediction: V to A (nonsynonymous)
Amino Acid Position: 388
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFF
THLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQ
FADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGF
RLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEK
LATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYAAESFNDAKEKVR
NFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQKIK*

Gene Symbol:PAH
Accession:XM_017019370
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:26666653  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000106341 CLINVAR
dbSNP (RS) rs281865435 CLINVAR
MedGen C0031485 CLINVAR
NCBI Gene PAH CLINVAR
OMIM 261600 CLINVAR
  612349 CLINVAR