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NM_001110792.2(MECP2):c.531del (p.Ser178fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 13, 2010
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:
RCV000133141.2

Allele description [Variation Report for NM_001110792.2(MECP2):c.531del (p.Ser178fs)]

NM_001110792.2(MECP2):c.531del (p.Ser178fs)

Gene:
MECP2:methyl-CpG binding protein 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001110792.2(MECP2):c.531del (p.Ser178fs)
Other names:
NM_001110792.2(MECP2):c.531del; p.Ser178fs
HGVS:
  • NC_000023.11:g.154031336del
  • NG_007107.3:g.110771del
  • NM_001110792.2:c.531delMANE SELECT
  • NM_001316337.2:c.216del
  • NM_001369391.2:c.216del
  • NM_001369392.2:c.216del
  • NM_001369393.2:c.216del
  • NM_001369394.2:c.216del
  • NM_001386137.1:c.-128-47del
  • NM_001386138.1:c.-128-47del
  • NM_001386139.1:c.-128-47del
  • NM_004992.4:c.495del
  • NP_001104262.1:p.Ser178fs
  • NP_001303266.1:p.Ser73fs
  • NP_001356320.1:p.Ser73fs
  • NP_001356321.1:p.Ser73fs
  • NP_001356322.1:p.Ser73fs
  • NP_001356323.1:p.Ser73fs
  • NP_004983.1:p.Ser166fs
  • LRG_764t1:c.531del
  • LRG_764t2:c.495del
  • AJ132917.1:c.495delC
  • LRG_764:g.110771del
  • LRG_764p1:p.Ser178fs
  • LRG_764p2:p.Ser166fs
  • NC_000023.10:g.153296787del
  • NG_007107.2:g.110795del
  • NM_004992.3:c.495delC
Protein change:
S166fs
Links:
dbSNP: rs267608489
NCBI 1000 Genomes Browser:
rs267608489
Molecular consequence:
  • NM_001110792.2:c.531del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001316337.2:c.216del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369391.2:c.216del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369392.2:c.216del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369393.2:c.216del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369394.2:c.216del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004992.4:c.495del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001386137.1:c.-128-47del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386138.1:c.-128-47del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386139.1:c.-128-47del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000188133RettBASE
no assertion criteria provided
Pathogenic
(Jul 13, 2010) 		unknowncuration

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown1not providednot provided1Nocuration

Citations

PubMed

Mutation analysis in Rett syndrome.

Milunsky JM, Lebo RV, Ikuta T, Maher TA, Haverty CE, Milunsky A.

Genet Test. 2001 Winter;5(4):321-5.

PubMed [citation]
PMID:
11960578

Details of each submission

From RettBASE, SCV000188133.2

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

Description

"Not known"

PubMed [ID: 11960578]

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknown1bloodnot provided1not providednot providednot provided

Last Updated: Nov 20, 2023