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NM_024665.7(TBL1XR1):c.799G>T (p.Gly267Cys) AND Intellectual disability, autosomal dominant 41

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 15, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000995660.5

Allele description [Variation Report for NM_024665.7(TBL1XR1):c.799G>T (p.Gly267Cys)]

NM_024665.7(TBL1XR1):c.799G>T (p.Gly267Cys)

Genes:
TBL1XR1:TBL1X/Y related 1 [Gene - OMIM - HGNC]
TBL1XR1-AS1:TBL1XR1 antisense RNA 1 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q26.32
Genomic location:
Preferred name:
NM_024665.7(TBL1XR1):c.799G>T (p.Gly267Cys)
HGVS:
  • NC_000003.12:g.177047365C>A
  • NG_047195.1:g.154896G>T
  • NM_001321193.3:c.799G>T
  • NM_001321194.3:c.799G>T
  • NM_001321195.3:c.538G>T
  • NM_001374327.1:c.799G>T
  • NM_001374328.1:c.799G>T
  • NM_001374329.1:c.799G>T
  • NM_001374330.1:c.538G>T
  • NM_024665.7:c.799G>TMANE SELECT
  • NP_001308122.1:p.Gly267Cys
  • NP_001308123.1:p.Gly267Cys
  • NP_001308124.1:p.Gly180Cys
  • NP_001361256.1:p.Gly267Cys
  • NP_001361257.1:p.Gly267Cys
  • NP_001361258.1:p.Gly267Cys
  • NP_001361259.1:p.Gly180Cys
  • NP_078941.2:p.Gly267Cys
  • NC_000003.11:g.176765153C>A
Protein change:
G180C
Links:
dbSNP: rs1577017863
NCBI 1000 Genomes Browser:
rs1577017863
Molecular consequence:
  • NM_001321193.3:c.799G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321194.3:c.799G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321195.3:c.538G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374327.1:c.799G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374328.1:c.799G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374329.1:c.799G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374330.1:c.538G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024665.7:c.799G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Intellectual disability, autosomal dominant 41 (MRD41)
Synonyms:
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 41
Identifiers:
MONDO: MONDO:0014842; MedGen: C4310784; Orphanet: 2823; OMIM: 616944

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001149954Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
criteria provided, single submitter

(Classification criteria August 2017)		Pathogenic
(May 15, 2018) 		de novoclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot provided1not providedclinical testing

Details of each submission

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV001149954.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyes1bloodnot provided1not providednot providednot provided

Last Updated: Jun 23, 2024