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NM_001110792.2(MECP2):c.*177G>C AND Autism, susceptibility to, X-linked 3

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 23, 2006
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:
RCV000132778.2

Allele description [Variation Report for NM_001110792.2(MECP2):c.*177G>C]

NM_001110792.2(MECP2):c.*177G>C

Gene:
MECP2:methyl-CpG binding protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001110792.2(MECP2):c.*177G>C
HGVS:
  • NC_000023.11:g.154030190C>G
  • NG_007107.3:g.111914G>C
  • NM_001110792.2:c.*177G>CMANE SELECT
  • NM_001316337.2:c.*177G>C
  • NM_001369391.2:c.*177G>C
  • NM_001369392.2:c.*177G>C
  • NM_001369393.2:c.*177G>C
  • NM_001369394.2:c.*177G>C
  • NM_001386137.1:c.*177G>C
  • NM_001386138.1:c.*177G>C
  • NM_001386139.1:c.*177G>C
  • NM_004992.4:c.*177G>C
  • LRG_764t1:c.*177G>C
  • LRG_764t2:c.*177G>C
  • AJ132917.1:c.*177G>C
  • LRG_764:g.111914G>C
  • NC_000023.10:g.153295641C>G
  • NG_007107.2:g.111938G>C
  • NM_004992.3:c.*177G>C
Links:
dbSNP: rs267608345
NCBI 1000 Genomes Browser:
rs267608345
Molecular consequence:
  • NM_001110792.2:c.*177G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001316337.2:c.*177G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001369391.2:c.*177G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001369392.2:c.*177G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001369393.2:c.*177G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001369394.2:c.*177G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001386137.1:c.*177G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001386138.1:c.*177G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001386139.1:c.*177G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_004992.4:c.*177G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:
Autism, susceptibility to, X-linked 3 (AUTSX3)
Synonyms:
Austism susceptibility, X-linked; Autism susceptibility, X-linked 3
Identifiers:
MONDO: MONDO:0010342; MedGen: C1845336; OMIM: 300496

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000187755RettBASE
no assertion criteria provided
Uncertain significance
(Feb 23, 2006) 		maternal, unknowncuration

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not providednot provided1not providedcuration
not providedunknownno1not providednot provided1not providedcuration

Citations

PubMed

MECP2 structural and 3'-UTR variants in schizophrenia, autism and other psychiatric diseases: a possible association with autism.

Shibayama A, Cook EH Jr, Feng J, Glanzmann C, Yan J, Craddock N, Jones IR, Goldman D, Heston LL, Sommer SS.

Am J Med Genet B Neuropsychiatr Genet. 2004 Jul 1;128B(1):50-3.

PubMed [citation]
PMID:
15211631

Details of each submission

From RettBASE, SCV000187755.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedcuration PubMed (1)
2not provided1not providednot providedcuration PubMed (1)

Description

"Not Rett synd. - autism only"

PubMed [ID: 15211631]

"Not Rett synd. - Unaffected family member"

PubMed [ID: 15211631]

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyes1not providednot provided1not providednot providednot provided
2unknownno1not providednot provided1not providednot providednot provided

Last Updated: Apr 15, 2024