ClinVar

NM_015443.4(KANSL1):c.2837+2T>C

Gene:

KANSL1:KAT8 regulatory NSL complex subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

• Chr17: 46033078 (on Assembly GRCh38)
• Chr17: 44110444 (on Assembly GRCh37)

Preferred name:

NM_015443.4(KANSL1):c.2837+2T>C

HGVS:

• NC_000017.11:g.46033078A>G
• NG_032784.1:g.197297T>C
• NM_001193465.2:c.2834+2T>C
• NM_001193466.2:c.2837+2T>C
• NM_001379198.1:c.2837+2T>C
• NM_015443.4:c.2837+2T>CMANE SELECT
• NC_000017.10:g.44110444A>G
• NM_001193466.1:c.2837+2T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs975947508

NCBI 1000 Genomes Browser:

rs975947508

Molecular consequence:

• NM_001193465.2:c.2834+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001193466.2:c.2837+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001379198.1:c.2837+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_015443.4:c.2837+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]