ClinVar

NM_201548.5(CERKL):c.1539-5T>C

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: 181538249 (on Assembly GRCh38)
• Chr2: 182402976 (on Assembly GRCh37)

Preferred name:

NM_201548.5(CERKL):c.1539-5T>C

HGVS:

• NC_000002.12:g.181538249A>G
• NG_021178.2:g.123859T>C
• NG_050623.1:g.86358A>G
• NG_050623.2:g.86046A>G
• NM_000885.6:c.*2722A>GMANE SELECT
• NM_001030311.3:c.1617-5T>C
• NM_001030312.3:c.1200-5T>C
• NM_001030313.3:c.1332-5T>C
• NM_001160277.2:c.1485-5T>C
• NM_201548.5:c.1539-5T>CMANE SELECT
• NC_000002.11:g.182402976A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs371788033

NCBI 1000 Genomes Browser:

rs371788033

Molecular consequence:

• NM_000885.6:c.*2722A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001030311.3:c.1617-5T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001030312.3:c.1200-5T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001030313.3:c.1332-5T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001160277.2:c.1485-5T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_201548.5:c.1539-5T>C - intron variant - [Sequence Ontology: SO:0001627]