RGD:8556337 Rat Genome Database

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Variant: RGD:8556337 -  Homo sapiens

RGD ID: 8556337
RS ID: rs137852867
ClinVar ID: CV16614
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HPD  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 122,285,117
GRCh38 12 121,847,211
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.46401C>G
NC_000012.12:g.121847211G>C
NC_000012.11:g.122285117G>C
NP_001165464.1:p.Tyr161Ter
More... 		03/26/2014 nonsense|stop-gain pathogenic neonatal/infancy <1 / 1 000 000 4-alpha hydroxyphenylpyruvate dioxygenase deficiency; 4-alpha hydroxyphenylpyruvic acid oxidase deficiency; 4-Hydroxyphenylpyruvate dioxygenase deficiency; 4-HYDROXYPHENYLPYRUVIC ACID OXIDASE DEFICIENCY; Tyrosinemia type 3
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HPD
Accession:NM_001171993
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 161
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGFEPLAYRGLETGSREVVSHVIKQGKIVFVLSSALNPWNKEMGDHLVKHGDGVKDIAFEVEDCDYIVQKARERGAKIMR
EPWVEQDKFGKVKFAVLQTYGDTTHTLVEKMNYIGQFLPGYEAPAFMDPLLPKLPKCSLEMIDHIVGNQPDQEMVSASEW
*LKNLQFHRFWSVDDTQVHTEYSSLRSIVVANYEESIKMPINEPAPGKKKSQIQEYVDYNGGAGVQHIALKTEDIITAIR
HLRERGLEFLSVPSTYYKQLREKLKTAKIKVKENIDALEELKILVDYDEKGYLLQIFTKPVQDRPTLFLEVIQRHNHQGF
GAGNFNSLFKAFEEEQNLRGNLTNMETNGVVPGM*

Gene Symbol:HPD
Accession:NM_002150
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 200
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTYSDKGAKPERGRFLHFHSVTFWVGNAKQATSFYCSKMGFEPLAYRGLETGSREVVSHVIKQGKIVFVLSSALNPWNK
EMGDHLVKHGDGVKDIAFEVEDCDYIVQKARERGAKIMREPWVEQDKFGKVKFAVLQTYGDTTHTLVEKMNYIGQFLPGY
EAPAFMDPLLPKLPKCSLEMIDHIVGNQPDQEMVSASEW*LKNLQFHRFWSVDDTQVHTEYSSLRSIVVANYEESIKMPI
NEPAPGKKKSQIQEYVDYNGGAGVQHIALKTEDIITAIRHLRERGLEFLSVPSTYYKQLREKLKTAKIKVKENIDALEEL
KILVDYDEKGYLLQIFTKPVQDRPTLFLEVIQRHNHQGFGAGNFNSLFKAFEEEQNLRGNLTNMETNGVVPGM*
Variant Samples
Additional References at PubMed
PMID:9343288   PMID:10942115  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000001641 CLINVAR
dbSNP (RS) rs137852867 CLINVAR
MedGen C0268623 CLINVAR
NCBI Gene HPD CLINVAR
OMIM 276710 CLINVAR
  609695 CLINVAR
OMIM Allele 609695.0003 CLINVAR
SNOMED CT 413356003 CLINVAR