U.S. flag

An official website of the United States government

NM_001377265.1(MAPT):c.*2806A>C AND Syndromic intellectual disability

Clinical significance:Benign (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Help
Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000313182.3

Allele description [Variation Report for NM_001377265.1(MAPT):c.*2806A>C]

NM_001377265.1(MAPT):c.*2806A>C

Genes:
KANSL1:KAT8 regulatory NSL complex subunit 1 [Gene - OMIM - HGNC]
MAPT:microtubule associated protein tau [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_001377265.1(MAPT):c.*2806A>C
HGVS:
  • NC_000017.11:g.46026977A>C
  • NG_007398.1:g.137566A>C
  • NG_007398.2:g.137515A>C
  • NM_001123066.4:c.*2806A>C
  • NM_001123067.4:c.*2806A>C
  • NM_001203251.2:c.*2806A>C
  • NM_001203252.2:c.*2806A>C
  • NM_001377265.1:c.*2806A>CMANE SELECT
  • NM_001377266.1:c.*2806A>C
  • NM_001377267.1:c.*1789A>C
  • NM_001377268.1:c.*2806A>C
  • NM_005910.6:c.*2806A>C
  • NM_016834.5:c.*2806A>C
  • NM_016835.5:c.*2806A>C
  • NM_016841.5:c.*2806A>C
  • LRG_660t1:c.*2806A>C
  • LRG_660t2:c.*2806A>C
  • LRG_660:g.137515A>C
  • NC_000017.10:g.44104343A>C
  • NM_001123066.3:c.*2806A>C
  • NM_005910.5:c.*2806A>C
  • NR_165166.1:n.3963A>C
Links:
dbSNP: rs2158257
NCBI 1000 Genomes Browser:
rs2158257
Molecular consequence:
  • NM_001123066.4:c.*2806A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001123067.4:c.*2806A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001203251.2:c.*2806A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001203252.2:c.*2806A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001377265.1:c.*2806A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001377266.1:c.*2806A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001377267.1:c.*1789A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001377268.1:c.*2806A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_005910.6:c.*2806A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_016834.5:c.*2806A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_016835.5:c.*2806A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_016841.5:c.*2806A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NR_165166.1:n.3963A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Syndromic intellectual disability
Synonyms:
Intellectual disability syndrome
Identifiers:
MONDO: MONDO:0000508; MedGen: CN225415

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000483613Illumina Laboratory Services,Illuminacriteria provided, single submitter
Benign
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

Help
EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Laboratory Services,Illumina, SCV000483613.2

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

Last Updated: Apr 23, 2022

You are here: NCBI
Support Center