NM_004992.3(MECP2):c.531delA (p.Lys177Asnfs) AND Rett syndrome

Clinical significance:Pathogenic (Last evaluated: Sep 5, 2002)

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:
RCV000133154.2

Allele description [Variation Report for NM_004992.3(MECP2):c.531delA (p.Lys177Asnfs)]

NM_004992.3(MECP2):c.531delA (p.Lys177Asnfs)

Gene:
MECP2:methyl-CpG binding protein 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_004992.3(MECP2):c.531delA (p.Lys177Asnfs)
HGVS:
  • NC_000023.11:g.154031297delT
  • NG_007107.2:g.110831delA
  • NM_001110792.1:c.567delA
  • NM_004992.3:c.531delA
  • NP_001104262.1:p.Lys189Asnfs
  • NP_004983.1:p.Lys177Asnfs
  • AJ132917.1:c.531delA
  • NC_000023.10:g.153296748delT
Links:
dbSNP: rs61749703
NCBI 1000 Genomes Browser:
rs61749703
Molecular consequence:
  • NM_004992.3:c.531delA - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Rett syndrome (RTT)
Synonyms:
MECP2-Related Disorders; Rett's disorder
Identifiers:
MedGen: C0035372; Orphanet: 3095; Orphanet: 778; OMIM: 312750

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000188146RettBASEno assertion criteria providedPathogenic
(Sep 5, 2002)
unknowncuration

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot provided1not providedcuration

Citations

PubMed

Influence of mutation type and location on phenotype in 123 patients with Rett syndrome.

Huppke P, Held M, Hanefeld F, Engel W, Laccone F.

Neuropediatrics. 2002 Apr;33(2):63-8.

PubMed [citation]
PMID:
12075485

Details of each submission

From RettBASE, SCV000188146.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedcuration PubMed (1)

Description

"Rett syndrome - Not certain"
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1Bloodnot provided1not providednot providednot provided

Last Updated: Jul 21, 2018