NM_001204403.1(ANK3):c.-739C>T AND Autistic disorder of childhood onset

Clinical significance:Uncertain significance (Last evaluated: Aug 1, 2018)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000722089.2

Allele description [Variation Report for NM_001204403.1(ANK3):c.-739C>T]

NM_001204403.1(ANK3):c.-739C>T

Genes:
ANK3:ankyrin 3 [Gene - OMIM - HGNC]
ANK3-DT:ANK3 divergent transcript [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q21.2
Genomic location:
Preferred name:
NM_001204403.1(ANK3):c.-739C>T
HGVS:
  • NC_000010.11:g.60734058G>A
  • NG_029917.1:g.4469C>T
  • NC_000010.10:g.62493816G>A
Links:
dbSNP: rs112339619
NCBI 1000 Genomes Browser:
rs112339619

Condition(s)

Name:
Autistic disorder of childhood onset (AUTS)
Identifiers:
MONDO: MONDO:0005260; MedGen: C0004352; OMIM: 209850; Human Phenotype Ontology: HP:0000717

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000853275Michaelson Lab,University of Iowano assertion criteria providedUncertain significance
(Aug 1, 2018)
inherited, unknownresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Causasianinheritedyes2not providednot providednot providednot providedresearch
Causasianunknownno2not providednot providednot providednot providedresearch

Details of each submission

From Michaelson Lab,University of Iowa, SCV000853275.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Causasian2not providednot providedresearchnot provided
2Causasian1not providednot providedresearchnot provided
3Causasian1not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided2not providednot providednot provided
2unknownnonot providednot providednot provided1not providednot providednot provided
3unknownnonot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2021

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