RGD:28911437 Rat Genome Database

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Variant: RGD:28911437 -  Homo sapiens

RGD ID: 28911437
RS ID: rs1878057534
ClinVar ID: CV869423
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HPD  TIALD  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 122,295,664
GRCh38 12 121,857,758
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002150.3:c.92A>G
NG_016461.1:g.35854A>G
NC_000012.12:g.121857758T>C
NC_000012.11:g.122295664T>C
More... 		04/27/2017 5 prime utr 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
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: Q to R (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTYSDKGAKPERGRFLHFHSVTFWVGNAKRATSFYCSKMGFEPLAYRGLETGSREVVSHVIKQGKIVFVLSSALNPWNK
EMGDHLVKHGDGVKDIAFEVEDCDYIVQKARERGAKIMREPWVEQDKFGKVKFAVLQTYGDTTHTLVEKMNYIGQFLPGY
EAPAFMDPLLPKLPKCSLEMIDHIVGNQPDQEMVSASEWYLKNLQFHRFWSVDDTQVHTEYSSLRSIVVANYEESIKMPI
NEPAPGKKKSQIQEYVDYNGGAGVQHIALKTEDIITAIRHLRERGLEFLSVPSTYYKQLREKLKTAKIKVKENIDALEEL
KILVDYDEKGYLLQIFTKPVQDRPTLFLEVIQRHNHQGFGAGNFNSLFKAFEEEQNLRGNLTNMETNGVVPGM*

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001110544 CLINVAR
  RCV001110545 CLINVAR
dbSNP (RS) rs1878057534 CLINVAR
MedGen C0268623 CLINVAR
  C2931042 CLINVAR
NCBI Gene HPD CLINVAR
OMIM 140350 CLINVAR
  276710 CLINVAR
  609695 CLINVAR
SNOMED CT 413356003 CLINVAR