ClinVar

NM_032581.4(HYCC1):c.1480G>A (p.Val494Ile)

Gene:

HYCC1:hyccin PI4KA lipid kinase complex subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p15.3

Genomic location:

• Chr7: 22945675 (on Assembly GRCh38)
• Chr7: 22985294 (on Assembly GRCh37)

Preferred name:

NM_032581.4(HYCC1):c.1480G>A (p.Val494Ile)

HGVS:

• NC_000007.14:g.22945675C>T
• NG_008392.1:g.73477G>A
• NM_001363466.2:c.*516G>A
• NM_001363467.2:c.*474G>A
• NM_032581.4:c.1480G>AMANE SELECT
• NP_115970.2:p.Val494Ile
• NC_000007.13:g.22985294C>T
• NM_032581.3:c.1480G>A
• p.Val494Ile

This HGVS expression did not pass validation

Protein change:

V494I

Links:

dbSNP: rs151228394

NCBI 1000 Genomes Browser:

rs151228394

Molecular consequence:

• NM_001363466.2:c.*516G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001363467.2:c.*474G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_032581.4:c.1480G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2