ClinVar

NM_201548.5(CERKL):c.775C>T (p.Leu259=)

Gene:

CERKL:ceramide kinase like [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.3

Genomic location:

• Chr2: 181558611 (on Assembly GRCh38)
• Chr2: 182423338 (on Assembly GRCh37)

Preferred name:

NM_201548.5(CERKL):c.775C>T (p.Leu259=)

HGVS:

• NC_000002.12:g.181558611G>A
• NG_021178.2:g.103497C>T
• NM_001030311.3:c.853C>T
• NM_001030312.3:c.482-8903C>T
• NM_001030313.3:c.614-8903C>T
• NM_001160277.2:c.721C>T
• NM_201548.5:c.775C>TMANE SELECT
• NP_001025482.1:p.Leu285=
• NP_001153749.1:p.Leu241=
• NP_963842.1:p.Leu259=
• NC_000002.11:g.182423338G>A
• NR_027689.2:n.678C>T
• NR_027690.2:n.810C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1472374122

NCBI 1000 Genomes Browser:

rs1472374122

Molecular consequence:

• NM_001030312.3:c.482-8903C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001030313.3:c.614-8903C>T - intron variant - [Sequence Ontology: SO:0001627]
• NR_027689.2:n.678C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_027690.2:n.810C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001030311.3:c.853C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001160277.2:c.721C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201548.5:c.775C>T - synonymous variant - [Sequence Ontology: SO:0001819]