ClinVar

NM_006214.4(PHYH):c.734G>A (p.Arg245Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10p13

Genomic location:

• Chr10: 13283784 (on Assembly GRCh38)
• Chr10: 13325784 (on Assembly GRCh37)

Preferred name:

NM_006214.4(PHYH):c.734G>A (p.Arg245Gln)

HGVS:

• NC_000010.11:g.13283784C>T
• NG_012862.1:g.21347G>A
• NM_001037537.2:c.434G>A
• NM_001323080.2:c.434G>A
• NM_001323082.2:c.740G>A
• NM_001323083.2:c.470G>A
• NM_001323084.2:c.440G>A
• NM_006214.4:c.734G>AMANE SELECT
• NP_001032626.1:p.Arg145Gln
• NP_001032626.1:p.Arg145Gln
• NP_001310009.1:p.Arg145Gln
• NP_001310011.1:p.Arg247Gln
• NP_001310012.1:p.Arg157Gln
• NP_001310013.1:p.Arg147Gln
• NP_006205.1:p.Arg245Gln
• NC_000010.10:g.13325784C>T
• NM_001037537.1:c.434G>A
• NM_006214.3:c.734G>A
• O14832:p.Arg245Gln

This HGVS expression did not pass validation

Protein change:

R145Q

Links:

UniProtKB: O14832#VAR_017491; dbSNP: rs62619919

NCBI 1000 Genomes Browser:

rs62619919

Molecular consequence:

• NM_001037537.2:c.434G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323080.2:c.434G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323082.2:c.740G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323083.2:c.470G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323084.2:c.440G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_006214.4:c.734G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

3