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NM_001110792.2(MECP2):c.59_60del (p.Arg20fs) AND Rett syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 1, 2007
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000170293.1

Allele description

NM_001110792.2(MECP2):c.59_60del (p.Arg20fs)

Gene:
MECP2:methyl-CpG binding protein 2 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001110792.2(MECP2):c.59_60del (p.Arg20fs)
HGVS:
  • NC_000023.11:g.154097606TC[2]
  • NG_007107.2:g.44511GA[2]
  • NG_007107.3:g.44493GA[2]
  • NM_001110792.2:c.59_60delMANE SELECT
  • NM_001316337.2:c.-553GA[2]
  • NM_001369391.2:c.-848GA[2]
  • NM_001369392.2:c.-497GA[2]
  • NM_001369393.2:c.-373GA[2]
  • NM_001386137.1:c.-778GA[2]
  • NM_001386138.1:c.-666GA[2]
  • NM_001386139.1:c.-542GA[2]
  • NM_004992.4:c.-106GA[2]
  • NP_001104262.1:p.Arg20fs
  • LRG_764t1:c.59_60del
  • LRG_764t2:c.-106GA[2]
  • LRG_764:g.44493GA[2]
  • LRG_764p1:p.Arg20fs
  • NC_000023.10:g.153363063TC[2]
  • NM_001110792.1:c.59_60delGA
Protein change:
R20fs
Links:
dbSNP: rs786205047
NCBI 1000 Genomes Browser:
rs786205047
Molecular consequence:
  • NM_001316337.2:c.-553GA[2] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001369391.2:c.-848GA[2] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001369392.2:c.-497GA[2] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001369393.2:c.-373GA[2] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001386137.1:c.-778GA[2] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001386138.1:c.-666GA[2] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001386139.1:c.-542GA[2] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_004992.4:c.-106GA[2] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001110792.2:c.59_60del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Rett syndrome (RTT)
Synonyms:
Autism, dementia, ataxia, and loss of purposeful hand use; MECP2-Related Disorders; Rett's disorder
Identifiers:
MONDO: MONDO:0010726; MedGen: C0035372; Orphanet: 3095; Orphanet: 778; OMIM: 312750

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000222626RettBASE
no assertion criteria provided
Pathogenic
(Nov 1, 2007) 		de novocuration

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot provided1Nocuration

Citations

PubMed

A patient with classic Rett syndrome with a novel mutation in MECP2 exon 1.

Chunshu Y, Endoh K, Soutome M, Kawamura R, Kubota T.

Clin Genet. 2006 Dec;70(6):530-1. No abstract available.

PubMed [citation]
PMID:
17101000

Details of each submission

From RettBASE, SCV000222626.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providedNocuration PubMed (1)

Description

"Rett syndrome"

PubMed [ID: 17101000]

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyes1not knownnot provided1not providednot providednot provided

Last Updated: Sep 17, 2022