RGD:8648352 Rat Genome Database

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Variant: RGD:8648352 -  Homo sapiens

RGD ID: 8648352
RS ID: rs62509013
ClinVar ID: CV108505
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PAH  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 103,248,972
GRCh38 12 102,855,194
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.102855194G>C
NC_000012.11:g.103248972G>C
NP_000268.1:p.Tyr216Ter
NG_008690.2:g.108217C>G
More... 		10/30/2020 nonsense|stop-gain 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: Y to * (nonsynonymous)
Amino Acid Position: 216
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFF
THLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQ
FADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEK*CGFHEDNIPQLEDVSQFLQTCTGF
RLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEK
LATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVR
NFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQKIK*

Gene Symbol:PAH
Accession:NM_000277
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 216
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFF
THLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQ
FADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEK*CGFHEDNIPQLEDVSQFLQTCTGF
RLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEK
LATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVR
NFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQKIK*

Gene Symbol:PAH
Accession:XM_017019370
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 216
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFF
THLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQ
FADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEK*CGFHEDNIPQLEDVSQFLQIPAVL
*
Variant Samples
Additional References at PubMed
PMID:1301187   PMID:9012412   PMID:9634518   PMID:17502162   PMID:23430918   PMID:25741868   PMID:26666653   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000089019 CLINVAR
  RCV000179283 CLINVAR
dbSNP (RS) rs62509013 CLINVAR
MedGen C0031485 CLINVAR
  C3661900 CLINVAR
NCBI Gene PAH CLINVAR
OMIM 261600 CLINVAR
  612349 CLINVAR