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NM_001110792.2(MECP2):c.1485G>C (p.Glu495Asp) AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000133011.1

Allele description [Variation Report for NM_001110792.2(MECP2):c.1485G>C (p.Glu495Asp)]

NM_001110792.2(MECP2):c.1485G>C (p.Glu495Asp)

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.1485G>C (p.Glu495Asp)
Other names:
NM_001110792.2(MECP2):c.1485G>C; p.Glu495Asp
HGVS:
  • NC_000023.11:g.154030379C>G
  • NG_007107.3:g.111725G>C
  • NM_001110792.2:c.1485G>CMANE SELECT
  • NM_001316337.2:c.1170G>C
  • NM_001369391.2:c.1170G>C
  • NM_001369392.2:c.1170G>C
  • NM_001369393.2:c.1170G>C
  • NM_001369394.2:c.1170G>C
  • NM_001386137.1:c.780G>C
  • NM_001386138.1:c.780G>C
  • NM_001386139.1:c.780G>C
  • NM_004992.4:c.1449G>C
  • NP_001104262.1:p.Glu495Asp
  • NP_001303266.1:p.Glu390Asp
  • NP_001356320.1:p.Glu390Asp
  • NP_001356321.1:p.Glu390Asp
  • NP_001356322.1:p.Glu390Asp
  • NP_001356323.1:p.Glu390Asp
  • NP_001373066.1:p.Glu260Asp
  • NP_001373067.1:p.Glu260Asp
  • NP_001373068.1:p.Glu260Asp
  • NP_004983.1:p.Glu483Asp
  • LRG_764t1:c.1485G>C
  • LRG_764t2:c.1449G>C
  • AJ132917.1:c.1449G>C
  • LRG_764:g.111725G>C
  • LRG_764p1:p.Glu495Asp
  • LRG_764p2:p.Glu483Asp
  • NC_000023.10:g.153295830C>G
  • NG_007107.2:g.111749G>C
Protein change:
E260D
Links:
dbSNP: rs267608336
NCBI 1000 Genomes Browser:
rs267608336
Molecular consequence:
  • NM_001110792.2:c.1485G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001316337.2:c.1170G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369391.2:c.1170G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369392.2:c.1170G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369393.2:c.1170G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369394.2:c.1170G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386137.1:c.780G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386138.1:c.780G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386139.1:c.780G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004992.4:c.1449G>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000187998RettBASE
no classification provided
not providednot providednot provided

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Details of each submission

From RettBASE, SCV000187998.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024