ClinVar

NM_015443.4(KANSL1):c.2225G>A (p.Arg742Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

• Chr17: 46039194 (on Assembly GRCh38)
• Chr17: 44116560 (on Assembly GRCh37)

Preferred name:

NM_015443.4(KANSL1):c.2225G>A (p.Arg742Gln)

HGVS:

• NC_000017.11:g.46039194C>T
• NG_032784.1:g.191181G>A
• NM_001193465.2:c.2225G>A
• NM_001193466.2:c.2225G>A
• NM_001379198.1:c.2225G>A
• NM_015443.4:c.2225G>AMANE SELECT
• NP_001180394.1:p.Arg742Gln
• NP_001180395.1:p.Arg742Gln
• NP_001366127.1:p.Arg742Gln
• NP_056258.1:p.Arg742Gln
• NC_000017.10:g.44116560C>T

This HGVS expression did not pass validation

Protein change:

R742Q

Links:

dbSNP: rs752047149

NCBI 1000 Genomes Browser:

rs752047149

Molecular consequence:

• NM_001193465.2:c.2225G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001193466.2:c.2225G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379198.1:c.2225G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_015443.4:c.2225G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1