NM_000036.2(AMPD1):c.2042C>T (p.Thr681Ile) AND Autistic disorder of childhood onset

Clinical significance:Uncertain significance

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000143849.1

Allele description [Variation Report for NM_000036.2(AMPD1):c.2042C>T (p.Thr681Ile)]

NM_000036.2(AMPD1):c.2042C>T (p.Thr681Ile)

Gene:
AMPD1:adenosine monophosphate deaminase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p13.2
Genomic location:
Preferred name:
NM_000036.2(AMPD1):c.2042C>T (p.Thr681Ile)
HGVS:
  • NC_000001.11:g.114673940G>A
  • NG_008012.1:g.26616C>T
  • NM_000036.2:c.2042C>T
  • NM_001172626.1:c.2030C>T
  • NP_000027.2:p.Thr681Ile
  • NP_001166097.1:p.Thr677Ile
  • NC_000001.10:g.115216561G>A
Protein change:
T677I
Links:
dbSNP: rs587779374
NCBI 1000 Genomes Browser:
rs587779374
Molecular consequence:
  • NM_000036.2:c.2042C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001172626.1:c.2030C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000109580State Key Lab of Medical Genetics, Central South Universitycriteria provided, single submitter
Uncertain significancematernalreference population

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot providednot providednot providednot providednot providedreference population

Citations

PubMed

AMPD1 functional variants associated with autism in Han Chinese population.

Zhang L, Ou J, Xu X, Peng Y, Guo H, Pan Y, Chen J, Wang T, Peng H, Liu Q, Tian D, Pan Q, Zou X, Zhao J, Hu Z, Xia K.

Eur Arch Psychiatry Clin Neurosci. 2015 Sep;265(6):511-7. doi: 10.1007/s00406-014-0524-6. Epub 2014 Aug 26.

PubMed [citation]
PMID:
25155876

Details of each submission

From State Key Lab of Medical Genetics, Central South University, SCV000109580.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedreference population PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 24, 2021

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