ClinVar

NM_021115.5(SEZ6L):c.1515-5G>A

Gene:

SEZ6L:seizure related 6 homolog like [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q12.1

Genomic location:

• Chr22: 26310665 (on Assembly GRCh38)
• Chr22: 26706631 (on Assembly GRCh37)

Preferred name:

NM_021115.5(SEZ6L):c.1515-5G>A

HGVS:

• NC_000022.11:g.26310665G>A
• NG_054877.1:g.146192G>A
• NM_001184773.2:c.1515-5G>A
• NM_001184774.2:c.1515-5G>A
• NM_001184775.2:c.1515-5G>A
• NM_001184776.2:c.1515-5G>A
• NM_001184777.2:c.1515-5G>A
• NM_021115.5:c.1515-5G>AMANE SELECT
• NC_000022.10:g.26706631G>A
• NM_001184774.1:c.1515-5G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs193920909

NCBI 1000 Genomes Browser:

rs193920909

Molecular consequence:

• NM_001184773.2:c.1515-5G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001184774.2:c.1515-5G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001184775.2:c.1515-5G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001184776.2:c.1515-5G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001184777.2:c.1515-5G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_021115.5:c.1515-5G>A - intron variant - [Sequence Ontology: SO:0001627]