ClinVar

NM_201548.5(CERKL):c.1579G>A (p.Glu527Lys)

Genes:

CERKL:ceramide kinase like [Gene - OMIM - HGNC]
ITGA4:integrin subunit alpha 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.3

Genomic location:

• Chr2: 181538204 (on Assembly GRCh38)
• Chr2: 182402931 (on Assembly GRCh37)

Preferred name:

NM_201548.5(CERKL):c.1579G>A (p.Glu527Lys)

HGVS:

• NC_000002.12:g.181538204C>T
• NG_021178.2:g.123904G>A
• NG_050623.1:g.86313C>T
• NG_050623.2:g.86001C>T
• NM_000885.6:c.*2677C>TMANE SELECT
• NM_001030311.3:c.1657G>A
• NM_001030312.3:c.1240G>A
• NM_001030313.3:c.1372G>A
• NM_001160277.2:c.1525G>A
• NM_201548.5:c.1579G>AMANE SELECT
• NP_001025482.1:p.Glu553Lys
• NP_001025483.1:p.Glu414Lys
• NP_001025484.1:p.Glu458Lys
• NP_001153749.1:p.Glu509Lys
• NP_963842.1:p.Glu527Lys
• NC_000002.11:g.182402931C>T
• NM_001030311.2:c.1657G>A
• NR_027689.2:n.1482G>A
• NR_027690.2:n.1614G>A

This HGVS expression did not pass validation

Protein change:

E414K

Molecular consequence:

• NM_000885.6:c.*2677C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001030311.3:c.1657G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001030312.3:c.1240G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001030313.3:c.1372G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160277.2:c.1525G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_201548.5:c.1579G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_027689.2:n.1482G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_027690.2:n.1614G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]