ClinVar

NM_006214.4(PHYH):c.815A>T (p.Gln272Leu)

Gene:

PHYH:phytanoyl-CoA 2-hydroxylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10p13

Genomic location:

• Chr10: 13283703 (on Assembly GRCh38)
• Chr10: 13325703 (on Assembly GRCh37)

Preferred name:

NM_006214.4(PHYH):c.815A>T (p.Gln272Leu)

HGVS:

• NC_000010.11:g.13283703T>A
• NG_012862.1:g.21428A>T
• NM_001037537.2:c.515A>T
• NM_001323080.2:c.515A>T
• NM_001323082.2:c.821A>T
• NM_001323083.2:c.551A>T
• NM_001323084.2:c.521A>T
• NM_006214.4:c.815A>TMANE SELECT
• NP_001032626.1:p.Gln172Leu
• NP_001310009.1:p.Gln172Leu
• NP_001310011.1:p.Gln274Leu
• NP_001310012.1:p.Gln184Leu
• NP_001310013.1:p.Gln174Leu
• NP_006205.1:p.Gln272Leu
• NC_000010.10:g.13325703T>A

This HGVS expression did not pass validation

Protein change:

Q172L

Links:

dbSNP: rs2131634437

NCBI 1000 Genomes Browser:

rs2131634437

Molecular consequence:

• NM_001037537.2:c.515A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323080.2:c.515A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323082.2:c.821A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323083.2:c.551A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323084.2:c.521A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_006214.4:c.815A>T - missense variant - [Sequence Ontology: SO:0001583]