ClinVar

NM_015443.4(KANSL1):c.494C>T (p.Ser165Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

• Chr17: 46171650 (on Assembly GRCh38)
• Chr17: 44249016 (on Assembly GRCh37)

Preferred name:

NM_015443.4(KANSL1):c.494C>T (p.Ser165Leu)

HGVS:

• NC_000017.11:g.46171650G>A
• NG_032784.1:g.58725C>T
• NM_001193465.2:c.494C>T
• NM_001193466.2:c.494C>T
• NM_001379198.1:c.494C>T
• NM_015443.4:c.494C>TMANE SELECT
• NP_001180394.1:p.Ser165Leu
• NP_001180395.1:p.Ser165Leu
• NP_001366127.1:p.Ser165Leu
• NP_056258.1:p.Ser165Leu
• NC_000017.10:g.44249016G>A
• NM_001193466.1:c.494C>T

This HGVS expression did not pass validation

Protein change:

S165L

Links:

dbSNP: rs747586763

NCBI 1000 Genomes Browser:

rs747586763

Molecular consequence:

• NM_001193465.2:c.494C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001193466.2:c.494C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379198.1:c.494C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_015443.4:c.494C>T - missense variant - [Sequence Ontology: SO:0001583]