ClinVar

NM_006214.4(PHYH):c.830C>A (p.Ala277Glu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10p13

Genomic location:

• Chr10: 13281109 (on Assembly GRCh38)
• Chr10: 13323109 (on Assembly GRCh37)

Preferred name:

NM_006214.4(PHYH):c.830C>A (p.Ala277Glu)

HGVS:

• NC_000010.11:g.13281109G>T
• NG_012862.1:g.24022C>A
• NM_001037537.2:c.530C>A
• NM_001323080.2:c.530C>A
• NM_001323082.2:c.836C>A
• NM_001323083.2:c.566C>A
• NM_001323084.2:c.536C>A
• NM_006214.4:c.830C>AMANE SELECT
• NP_001032626.1:p.Ala177Glu
• NP_001310009.1:p.Ala177Glu
• NP_001310011.1:p.Ala279Glu
• NP_001310012.1:p.Ala189Glu
• NP_001310013.1:p.Ala179Glu
• NP_006205.1:p.Ala277Glu
• NC_000010.10:g.13323109G>T

This HGVS expression did not pass validation

Protein change:

A177E

Links:

dbSNP: rs1211539675

NCBI 1000 Genomes Browser:

rs1211539675

Molecular consequence:

• NM_001037537.2:c.530C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323080.2:c.530C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323082.2:c.836C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323083.2:c.566C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323084.2:c.536C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_006214.4:c.830C>A - missense variant - [Sequence Ontology: SO:0001583]