RGD:13618316 Rat Genome Database

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Variant: RGD:13618316 -  Homo sapiens

RGD ID: 13618316
RS ID: rs367674632
ClinVar ID: CV527273
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HPD  TIALD  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 122,295,681
GRCh38 12 121,857,775
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016461.1:g.35837G>A
NC_000012.12:g.121857775C>T
NC_000012.11:g.122295681C>T
NM_002150.3:c.75G>A
More... 		08/16/2019 5 prime utr variant|nonsense pathogenic|likely pathogenic 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
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:5UTRS;EXON

Gene Symbol:HPD
Accession:NM_002150
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 25
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTYSDKGAKPERGRFLHFHSVTF*VGNAKQATSFYCSKMGFEPLAYRGLETGSREVVSHVIKQGKIVFVLSSALNPWNK
EMGDHLVKHGDGVKDIAFEVEDCDYIVQKARERGAKIMREPWVEQDKFGKVKFAVLQTYGDTTHTLVEKMNYIGQFLPGY
EAPAFMDPLLPKLPKCSLEMIDHIVGNQPDQEMVSASEWYLKNLQFHRFWSVDDTQVHTEYSSLRSIVVANYEESIKMPI
NEPAPGKKKSQIQEYVDYNGGAGVQHIALKTEDIITAIRHLRERGLEFLSVPSTYYKQLREKLKTAKIKVKENIDALEEL
KILVDYDEKGYLLQIFTKPVQDRPTLFLEVIQRHNHQGFGAGNFNSLFKAFEEEQNLRGNLTNMETNGVVPGM*

Gene Symbol:TIALD
Accession:XR_002957437
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:10942115   PMID:23036342   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000634916 CLINVAR
  RCV000714861 CLINVAR
  RCV001784207 CLINVAR
dbSNP (RS) rs367674632 CLINVAR
MedGen C0268623 CLINVAR
  C2931042 CLINVAR
  C3661900 CLINVAR
NCBI Gene HPD CLINVAR
OMIM 140350 CLINVAR
  276710 CLINVAR
  609695 CLINVAR
SNOMED CT 413356003 CLINVAR