ClinVar

NM_015443.4(KANSL1):c.2021-234A>C

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

• Chr17: 46040118 (on Assembly GRCh38)
• Chr17: 44117484 (on Assembly GRCh37)

Preferred name:

NM_015443.4(KANSL1):c.2021-234A>C

HGVS:

• NC_000017.11:g.46040118T>G
• NG_032784.1:g.190257A>C
• NM_001193465.2:c.2021-234A>C
• NM_001193466.2:c.2021-234A>C
• NM_001379198.1:c.2021-234A>C
• NM_015443.4:c.2021-234A>CMANE SELECT
• NC_000017.10:g.44117484T>G

This HGVS expression did not pass validation

Molecular consequence:

• NM_001193465.2:c.2021-234A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001193466.2:c.2021-234A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001379198.1:c.2021-234A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_015443.4:c.2021-234A>C - intron variant - [Sequence Ontology: SO:0001627]