ClinVar

NM_006214.4(PHYH):c.927T>C (p.His309=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10p13

Genomic location:

• Chr10: 13281012 (on Assembly GRCh38)
• Chr10: 13323012 (on Assembly GRCh37)

Preferred name:

NM_006214.4(PHYH):c.927T>C (p.His309=)

HGVS:

• NC_000010.11:g.13281012A>G
• NG_012862.1:g.24119T>C
• NM_001037537.2:c.627T>C
• NM_001323080.2:c.627T>C
• NM_001323082.2:c.933T>C
• NM_001323083.2:c.663T>C
• NM_001323084.2:c.633T>C
• NM_006214.4:c.927T>CMANE SELECT
• NP_001032626.1:p.His209=
• NP_001310009.1:p.His209=
• NP_001310011.1:p.His311=
• NP_001310012.1:p.His221=
• NP_001310013.1:p.His211=
• NP_006205.1:p.His309=
• NC_000010.10:g.13323012A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs1437189616

NCBI 1000 Genomes Browser:

rs1437189616

Molecular consequence:

• NM_001037537.2:c.627T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001323080.2:c.627T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001323082.2:c.933T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001323083.2:c.663T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001323084.2:c.633T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_006214.4:c.927T>C - synonymous variant - [Sequence Ontology: SO:0001819]