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NM_015443.4(KANSL1):c.541C>T (p.Arg181Trp) AND not provided

Clinical significance:Likely benign (Last evaluated: Oct 23, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001705003.1

Allele description [Variation Report for NM_015443.4(KANSL1):c.541C>T (p.Arg181Trp)]

NM_015443.4(KANSL1):c.541C>T (p.Arg181Trp)

Gene:
KANSL1:KAT8 regulatory NSL complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_015443.4(KANSL1):c.541C>T (p.Arg181Trp)
Other names:
p.R181W:CGG>TGG
HGVS:
  • NC_000017.11:g.46171603G>A
  • NG_032784.1:g.58772C>T
  • NM_001193465.2:c.541C>T
  • NM_001193466.2:c.541C>T
  • NM_001379198.1:c.541C>T
  • NM_015443.4:c.541C>TMANE SELECT
  • NP_001180394.1:p.Arg181Trp
  • NP_001180395.1:p.Arg181Trp
  • NP_001366127.1:p.Arg181Trp
  • NP_056258.1:p.Arg181Trp
  • NC_000017.10:g.44248969G>A
  • NM_001193466.1:c.541C>T
Protein change:
R181W
Links:
dbSNP: rs375225315
NCBI 1000 Genomes Browser:
rs375225315
Molecular consequence:
  • NM_001193465.2:c.541C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001193466.2:c.541C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379198.1:c.541C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015443.4:c.541C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000241354GeneDxcriteria provided, single submitter
Likely benign
(Oct 23, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000241354.11

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is associated with the following publications: (PMID: 29352316)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 23, 2022

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