RGD:11606856 Rat Genome Database

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Variant: RGD:11606856 -  Homo sapiens

RGD ID: 11606856
RS ID: rs144544907
ClinVar ID: CV323533
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HPD  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 122,281,675
GRCh38 12 121,843,769
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
NG_016461.1:g.49843C>T
NC_000012.12:g.121843769G>A
NC_000012.11:g.122281675G>A
NP_001165464.1:p.Leu260=
More... 		01/12/2018 synonymous variant benign|likely benign|uncertain significance infancy <1 / 1 000 000 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; Tyrosinemia type 3; Tyrosinemia type III
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Hawkinsinuria  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:HPD
Accession:NM_001171993
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 260
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: 299
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTYSDKGAKPERGRFLHFHSVTFWVGNAKQATSFYCSKMGFEPLAYRGLETGSREVVSHVIKQGKIVFVLSSALNPWNK
EMGDHLVKHGDGVKDIAFEVEDCDYIVQKARERGAKIMREPWVEQDKFGKVKFAVLQTYGDTTHTLVEKMNYIGQFLPGY
EAPAFMDPLLPKLPKCSLEMIDHIVGNQPDQEMVSASEWYLKNLQFHRFWSVDDTQVHTEYSSLRSIVVANYEESIKMPI
NEPAPGKKKSQIQEYVDYNGGAGVQHIALKTEDIITAIRHLRERGLEFLSVPSTYYKQLREKLKTAKIKVKENIDALEEL
KILVDYDEKGYLLQIFTKPVQDRPTLFLEVIQRHNHQGFGAGNFNSLFKAFEEEQNLRGNLTNMETNGVVPGM*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000336439 CLINVAR
  RCV000400660 CLINVAR
  RCV002056273 CLINVAR
  RCV003957595 CLINVAR
dbSNP (RS) rs144544907 CLINVAR
MedGen C0268623 CLINVAR
  C2931042 CLINVAR
NCBI Gene HPD CLINVAR
OMIM 140350 CLINVAR
  276710 CLINVAR
  609695 CLINVAR
SNOMED CT 413356003 CLINVAR