RGD:15116282 Rat Genome Database

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Variant: RGD:15116282 -  Homo sapiens

RGD ID: 15116282
RS ID: rs145947530
ClinVar ID: CV738503
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HPD  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 122,277,871
GRCh38 12 121,839,965
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001171993.2:c.921C>T
NM_002150.3:c.1038C>T
NG_016461.1:g.53647C>T
NC_000012.12:g.121839965G>A
More...
06/13/2018 synonymous variant likely benign 4-alpha hydroxyphenylpyruvate dioxygenase deficiency; 4-alpha hydroxyphenylpyruvic acid oxidase deficiency; 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency; 4-Hydroxyphenylpyruvate dioxygenase deficiency; 4-HYDROXYPHENYLPYRUVIC ACID OXIDASE DEFICIENCY; none provided; Tyrosinemia type 3; Tyrosinemia type III

Variant Details
Variant Transcripts
Gene Symbol:HPD
Accession:NM_001171993
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 307
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGFEPLAYRGLETGSREVVSHVIKQGKIVFVLSSALNPWNKEMGDHLVKHGDGVKDIAFEVEDCDYIVQKARERGAKIMR
EPWVEQDKFGKVKFAVLQTYGDTTHTLVEKMNYIGQFLPGYEAPAFMDPLLPKLPKCSLEMIDHIVGNQPDQEMVSASEW
YLKNLQFHRFWSVDDTQVHTEYSSLRSIVVANYEESIKMPINEPAPGKKKSQIQEYVDYNGGAGVQHIALKTEDIITAIR
HLRERGLEFLSVPSTYYKQLREKLKTAKIKVKENIDALEELKILVDYDEKGYLLQIFTKPVQDRPTLFLEVIQRHNHQGF
GAGNFNSLFKAFEEEQNLRGNLTNMETNGVVPGM*

Gene Symbol:HPD
Accession:NM_002150
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 346
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTYSDKGAKPERGRFLHFHSVTFWVGNAKQATSFYCSKMGFEPLAYRGLETGSREVVSHVIKQGKIVFVLSSALNPWNK
EMGDHLVKHGDGVKDIAFEVEDCDYIVQKARERGAKIMREPWVEQDKFGKVKFAVLQTYGDTTHTLVEKMNYIGQFLPGY
EAPAFMDPLLPKLPKCSLEMIDHIVGNQPDQEMVSASEWYLKNLQFHRFWSVDDTQVHTEYSSLRSIVVANYEESIKMPI
NEPAPGKKKSQIQEYVDYNGGAGVQHIALKTEDIITAIRHLRERGLEFLSVPSTYYKQLREKLKTAKIKVKENIDALEEL
KILVDYDEKGYLLQIFTKPVQDRPTLFLEVIQRHNHQGFGAGNFNSLFKAFEEEQNLRGNLTNMETNGVVPGM*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000895172 CLINVAR
  RCV003768769 CLINVAR
dbSNP (RS) rs145947530 CLINVAR
MedGen C2931042 CLINVAR
  C3661900 CLINVAR
NCBI Gene HPD CLINVAR
OMIM 140350 CLINVAR
  276710 CLINVAR
  609695 CLINVAR
SNOMED CT 413356003 CLINVAR