ClinVar

NM_006214.4(PHYH):c.792C>T (p.His264=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10p13

Genomic location:

• Chr10: 13283726 (on Assembly GRCh38)
• Chr10: 13325726 (on Assembly GRCh37)

Preferred name:

NM_006214.4(PHYH):c.792C>T (p.His264=)

HGVS:

• NC_000010.11:g.13283726G>A
• NG_012862.1:g.21405C>T
• NM_001037537.2:c.492C>T
• NM_001323080.2:c.492C>T
• NM_001323082.2:c.798C>T
• NM_001323083.2:c.528C>T
• NM_001323084.2:c.498C>T
• NM_006214.4:c.792C>TMANE SELECT
• NP_001032626.1:p.His164=
• NP_001310009.1:p.His164=
• NP_001310011.1:p.His266=
• NP_001310012.1:p.His176=
• NP_001310013.1:p.His166=
• NP_006205.1:p.His264=
• NC_000010.10:g.13325726G>A
• NM_006214.3:c.792C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs372047384

NCBI 1000 Genomes Browser:

rs372047384

Molecular consequence:

• NM_001037537.2:c.492C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001323080.2:c.492C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001323082.2:c.798C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001323083.2:c.528C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001323084.2:c.498C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_006214.4:c.792C>T - synonymous variant - [Sequence Ontology: SO:0001819]