ClinVar

NM_006214.4(PHYH):c.774C>T (p.Phe258=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10p13

Genomic location:

• Chr10: 13283744 (on Assembly GRCh38)
• Chr10: 13325744 (on Assembly GRCh37)

Preferred name:

NM_006214.4(PHYH):c.774C>T (p.Phe258=)

HGVS:

• NC_000010.11:g.13283744G>A
• NG_012862.1:g.21387C>T
• NM_001037537.2:c.474C>T
• NM_001323080.2:c.474C>T
• NM_001323082.2:c.780C>T
• NM_001323083.2:c.510C>T
• NM_001323084.2:c.480C>T
• NM_006214.4:c.774C>TMANE SELECT
• NP_001032626.1:p.Phe158=
• NP_001310009.1:p.Phe158=
• NP_001310011.1:p.Phe260=
• NP_001310012.1:p.Phe170=
• NP_001310013.1:p.Phe160=
• NP_006205.1:p.Phe258=
• NC_000010.10:g.13325744G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001037537.2:c.474C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001323080.2:c.474C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001323082.2:c.780C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001323083.2:c.510C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001323084.2:c.480C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_006214.4:c.774C>T - synonymous variant - [Sequence Ontology: SO:0001819]