ClinVar

NM_015443.4(KANSL1):c.1864A>G (p.Thr622Ala)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

• Chr17: 46050689 (on Assembly GRCh38)
• Chr17: 44128055 (on Assembly GRCh37)

Preferred name:

NM_015443.4(KANSL1):c.1864A>G (p.Thr622Ala)

HGVS:

• NC_000017.11:g.46050689T>C
• NG_032784.1:g.179686A>G
• NM_001193465.2:c.1864A>G
• NM_001193466.2:c.1864A>G
• NM_001379198.1:c.1864A>G
• NM_015443.4:c.1864A>GMANE SELECT
• NP_001180394.1:p.Thr622Ala
• NP_001180395.1:p.Thr622Ala
• NP_001366127.1:p.Thr622Ala
• NP_056258.1:p.Thr622Ala
• NC_000017.10:g.44128055T>C
• NM_001193466.1:c.1864A>G

This HGVS expression did not pass validation

Protein change:

T622A

Links:

dbSNP: rs567178302

NCBI 1000 Genomes Browser:

rs567178302

Molecular consequence:

• NM_001193465.2:c.1864A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001193466.2:c.1864A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379198.1:c.1864A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_015443.4:c.1864A>G - missense variant - [Sequence Ontology: SO:0001583]