ClinVar

NM_015443.4(KANSL1):c.3019C>T (p.Arg1007Trp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

• Chr17: 46032118 (on Assembly GRCh38)
• Chr17: 44109484 (on Assembly GRCh37)

Preferred name:

NM_015443.4(KANSL1):c.3019C>T (p.Arg1007Trp)

HGVS:

• NC_000017.11:g.46032118G>A
• NG_032784.1:g.198257C>T
• NM_001193465.2:c.3016C>T
• NM_001193466.2:c.3019C>T
• NM_001379198.1:c.3019C>T
• NM_015443.4:c.3019C>TMANE SELECT
• NP_001180394.1:p.Arg1006Trp
• NP_001180395.1:p.Arg1007Trp
• NP_001366127.1:p.Arg1007Trp
• NP_056258.1:p.Arg1007Trp
• NC_000017.10:g.44109484G>A
• NM_001193466.1:c.3019C>T

This HGVS expression did not pass validation

Protein change:

R1006W

Links:

dbSNP: rs1057522661

NCBI 1000 Genomes Browser:

rs1057522661

Molecular consequence:

• NM_001193465.2:c.3016C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001193466.2:c.3019C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379198.1:c.3019C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_015443.4:c.3019C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1