ClinVar

NM_015443.4(KANSL1):c.2481C>T (p.Ser827=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

• Chr17: 46038598 (on Assembly GRCh38)
• Chr17: 44115964 (on Assembly GRCh37)

Preferred name:

NM_015443.4(KANSL1):c.2481C>T (p.Ser827=)

Other names:

p.S827S:TCC>TCT

HGVS:

• NC_000017.11:g.46038598G>A
• NG_032784.1:g.191777C>T
• NM_001193465.2:c.2481C>T
• NM_001193466.2:c.2481C>T
• NM_001379198.1:c.2481C>T
• NM_015443.4:c.2481C>TMANE SELECT
• NP_001180394.1:p.Ser827=
• NP_001180395.1:p.Ser827=
• NP_001366127.1:p.Ser827=
• NP_056258.1:p.Ser827=
• NC_000017.10:g.44115964G>A
• NM_001193466.1:c.2481C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs143653891

NCBI 1000 Genomes Browser:

rs143653891

Molecular consequence:

• NM_001193465.2:c.2481C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001193466.2:c.2481C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001379198.1:c.2481C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_015443.4:c.2481C>T - synonymous variant - [Sequence Ontology: SO:0001819]