RGD:38482537 Rat Genome Database

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Variant: RGD:38482537 -  Homo sapiens

RGD ID: 38482537
RS ID: rs1877352949
ClinVar ID: CV947807
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HPD  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 122,277,893
GRCh38 12 121,839,987
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.899C>G
NM_002150.3:c.1016C>G
NG_016461.1:g.53625C>G
NC_000012.12:g.121839987G>C
More... 		09/11/2019 missense variant uncertain significance 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
hawkinsinuria  (IAGP)

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: P to R (nonsynonymous)
Amino Acid Position: 300
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGFEPLAYRGLETGSREVVSHVIKQGKIVFVLSSALNPWNKEMGDHLVKHGDGVKDIAFEVEDCDYIVQKARERGAKIMR
EPWVEQDKFGKVKFAVLQTYGDTTHTLVEKMNYIGQFLPGYEAPAFMDPLLPKLPKCSLEMIDHIVGNQPDQEMVSASEW
YLKNLQFHRFWSVDDTQVHTEYSSLRSIVVANYEESIKMPINEPAPGKKKSQIQEYVDYNGGAGVQHIALKTEDIITAIR
HLRERGLEFLSVPSTYYKQLREKLKTAKIKVKENIDALEELKILVDYDEKGYLLQIFTKRVQDRPTLFLEVIQRHNHQGF
GAGNFNSLFKAFEEEQNLRGNLTNMETNGVVPGM*

Gene Symbol:HPD
Accession:NM_002150
Location:EXON
Amino Acid Prediction: P to R (nonsynonymous)
Amino Acid Position: 339
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTYSDKGAKPERGRFLHFHSVTFWVGNAKQATSFYCSKMGFEPLAYRGLETGSREVVSHVIKQGKIVFVLSSALNPWNK
EMGDHLVKHGDGVKDIAFEVEDCDYIVQKARERGAKIMREPWVEQDKFGKVKFAVLQTYGDTTHTLVEKMNYIGQFLPGY
EAPAFMDPLLPKLPKCSLEMIDHIVGNQPDQEMVSASEWYLKNLQFHRFWSVDDTQVHTEYSSLRSIVVANYEESIKMPI
NEPAPGKKKSQIQEYVDYNGGAGVQHIALKTEDIITAIRHLRERGLEFLSVPSTYYKQLREKLKTAKIKVKENIDALEEL
KILVDYDEKGYLLQIFTKRVQDRPTLFLEVIQRHNHQGFGAGNFNSLFKAFEEEQNLRGNLTNMETNGVVPGM*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001235563 CLINVAR
dbSNP (RS) rs1877352949 CLINVAR
MedGen C2931042 CLINVAR
NCBI Gene HPD CLINVAR
OMIM 140350 CLINVAR
  276710 CLINVAR
  609695 CLINVAR
SNOMED CT 413356003 CLINVAR