ClinVar

NM_002150.3(HPD):c.97A>G (p.Thr33Ala)

Gene:

HPD:4-hydroxyphenylpyruvate dioxygenase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.31

Genomic location:

• Chr12: 121857429 (on Assembly GRCh38)
• Chr12: 122295335 (on Assembly GRCh37)

Preferred name:

NM_002150.3(HPD):c.97A>G (p.Thr33Ala)

HGVS:

• NC_000012.12:g.121857429T>C
• NG_016461.1:g.36183=
• NM_001171993.2:c.-21A>G
• NM_002150.3:c.97A>GMANE SELECT
• NP_002141.2:p.Thr33Ala
• NC_000012.11:g.122295335T>C
• NM_002150.2:c.97G>G

This HGVS expression did not pass validation

Protein change:

T33A

Links:

dbSNP: rs1154510

NCBI 1000 Genomes Browser:

rs1154510

Molecular consequence:

• NM_001171993.2:c.-21A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_002150.3:c.97A>G - missense variant - [Sequence Ontology: SO:0001583]