NM_001267550.2(TTN):c.71581T>C (p.Tyr23861His) AND Rare genetic intellectual disability

Clinical significance:Uncertain significance

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:
RCV001257028.1

Allele description [Variation Report for NM_001267550.2(TTN):c.71581T>C (p.Tyr23861His)]

NM_001267550.2(TTN):c.71581T>C (p.Tyr23861His)

Genes:
TTN-AS1:TTN antisense RNA 1 [Gene - HGNC]
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.71581T>C (p.Tyr23861His)
HGVS:
  • NC_000002.12:g.178574551A>G
  • NG_011618.3:g.261252T>C
  • NG_051363.1:g.56725A>G
  • NM_001256850.1:c.66658T>C
  • NM_001267550.2:c.71581T>CMANE SELECT
  • NM_003319.4:c.44386T>C
  • NM_133378.4:c.63877T>C
  • NM_133432.3:c.44761T>C
  • NM_133437.4:c.44962T>C
  • NP_001243779.1:p.Tyr22220His
  • NP_001254479.2:p.Tyr23861His
  • NP_003310.4:p.Tyr14796His
  • NP_596869.4:p.Tyr21293His
  • NP_597676.3:p.Tyr14921His
  • NP_597681.4:p.Tyr14988His
  • LRG_391t1:c.71581T>C
  • LRG_391:g.261252T>C
  • NC_000002.11:g.179439278A>G
  • NM_001267550.1:c.71581T>C
Protein change:
Y14796H
Links:
dbSNP: rs759611506
NCBI 1000 Genomes Browser:
rs759611506
Molecular consequence:
  • NM_001256850.1:c.66658T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.71581T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.44386T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.63877T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.44761T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.44962T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Rare genetic intellectual disability
Identifiers:
MedGen: CN283358

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001433584Service de Génétique Moléculaire,Hôpital Robert Debréno assertion criteria providedUncertain significancepaternalclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalunknownnot provided1not providednot providednot providedclinical testing

Details of each submission

From Service de Génétique Moléculaire,Hôpital Robert Debré, SCV001433584.1

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

Last Updated: Nov 27, 2021

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