ClinVar

NM_006214.4(PHYH):c.*65G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10p13

Genomic location:

• Chr10: 13278236 (on Assembly GRCh38)
• Chr10: 13320236 (on Assembly GRCh37)

Preferred name:

NM_006214.4(PHYH):c.*65G>A

HGVS:

• NC_000010.11:g.13278236C>T
• NG_012862.1:g.26895G>A
• NM_001037537.2:c.*65G>A
• NM_001323080.2:c.*65G>A
• NM_001323082.2:c.*65G>A
• NM_001323083.2:c.*65G>A
• NM_001323084.2:c.*65G>A
• NM_006214.4:c.*65G>AMANE SELECT
• NC_000010.10:g.13320236C>T
• NM_006214.3:c.*65G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs11133

NCBI 1000 Genomes Browser:

rs11133

Molecular consequence:

• NM_001037537.2:c.*65G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001323080.2:c.*65G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001323082.2:c.*65G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001323083.2:c.*65G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001323084.2:c.*65G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_006214.4:c.*65G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]