NM_006311.4(NCOR1):c.5627G>C (p.Arg1876Thr) AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Jan 22, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001256084.1

Allele description [Variation Report for NM_006311.4(NCOR1):c.5627G>C (p.Arg1876Thr)]

NM_006311.4(NCOR1):c.5627G>C (p.Arg1876Thr)

Gene:
NCOR1:nuclear receptor corepressor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p12
Genomic location:
Preferred name:
NM_006311.4(NCOR1):c.5627G>C (p.Arg1876Thr)
HGVS:
  • NC_000017.11:g.16061655C>G
  • NG_047111.1:g.160092G>C
  • NM_001190440.1:c.5572+103G>C
  • NM_006311.4:c.5627G>CMANE SELECT
  • NP_006302.2:p.Arg1876Thr
  • NC_000017.10:g.15964969C>G
  • NM_006311.3:c.5627G>C
Protein change:
R1876T
Molecular consequence:
  • NM_001190440.1:c.5572+103G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_006311.4:c.5627G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Autistic disorder of childhood onset (AUTS)
Identifiers:
MONDO: MONDO:0005260; MedGen: C0004352; OMIM: 209850; Human Phenotype Ontology: HP:0000717
Name:
Intellectual disability
Synonyms:
Dull intelligence; Low intelligence; Mental deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0001071; MedGen: C3714756; Human Phenotype Ontology: HP:0001249

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001432871New York Genome Center - CSER-NYCKidSeqcriteria provided, single submitter
Uncertain significance
(Jan 22, 2020)
paternalclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyes1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV001432871.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyes1not providednot provided1not providednot providednot provided

Last Updated: Sep 24, 2021

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