U.S. flag

An official website of the United States government

NM_015443.4(KANSL1):c.3091-167C>T AND not provided

Clinical significance:Likely benign (Last evaluated: Jun 26, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001536714.2

Allele description [Variation Report for NM_015443.4(KANSL1):c.3091-167C>T]

NM_015443.4(KANSL1):c.3091-167C>T

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.3091-167C>T
HGVS:
  • NC_000017.11:g.46031870G>A
  • NG_032784.1:g.198505C>T
  • NM_001193465.2:c.3088-167C>T
  • NM_001193466.2:c.3091-167C>T
  • NM_001379198.1:c.3091-167C>T
  • NM_015443.4:c.3091-167C>TMANE SELECT
  • NC_000017.10:g.44109236G>A
Molecular consequence:
  • NM_001193465.2:c.3088-167C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001193466.2:c.3091-167C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001379198.1:c.3091-167C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_015443.4:c.3091-167C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001753516GeneDxcriteria provided, single submitter
Likely benign
(Jun 26, 2018)
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, SCV001753516.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022

Support Center