ClinVar

NM_201548.5(CERKL):c.820+9G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.3

Genomic location:

• Chr2: 181558557 (on Assembly GRCh38)
• Chr2: 182423284 (on Assembly GRCh37)

Preferred name:

NM_201548.5(CERKL):c.820+9G>A

HGVS:

• NC_000002.12:g.181558557C>T
• NG_021178.2:g.103551G>A
• NM_001030311.3:c.898+9G>A
• NM_001030312.3:c.482-8849G>A
• NM_001030313.3:c.614-8849G>A
• NM_001160277.2:c.766+9G>A
• NM_201548.5:c.820+9G>AMANE SELECT
• NC_000002.11:g.182423284C>T
• NM_001030311.2:c.898+9G>A
• NM_201548.4:c.820+9G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs189638090

NCBI 1000 Genomes Browser:

rs189638090

Molecular consequence:

• NM_001030311.3:c.898+9G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001030312.3:c.482-8849G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001030313.3:c.614-8849G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001160277.2:c.766+9G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_201548.5:c.820+9G>A - intron variant - [Sequence Ontology: SO:0001627]