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NM_001110792.2(MECP2):c.398A>G (p.Asp133Gly) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 8, 2005
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:
RCV000133078.2

Allele description [Variation Report for NM_001110792.2(MECP2):c.398A>G (p.Asp133Gly)]

NM_001110792.2(MECP2):c.398A>G (p.Asp133Gly)

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.398A>G (p.Asp133Gly)
Other names:
NM_001110792.2(MECP2):c.398A>G; p.Asp133Gly
HGVS:
  • NC_000023.11:g.154032222T>C
  • NG_007107.3:g.109882A>G
  • NM_001110792.2:c.398A>GMANE SELECT
  • NM_001316337.2:c.83A>G
  • NM_001369391.2:c.83A>G
  • NM_001369392.2:c.83A>G
  • NM_001369393.2:c.83A>G
  • NM_001369394.2:c.83A>G
  • NM_001386137.1:c.-199A>G
  • NM_001386138.1:c.-199A>G
  • NM_001386139.1:c.-199A>G
  • NM_004992.4:c.362A>G
  • NP_001104262.1:p.Asp133Gly
  • NP_001303266.1:p.Asp28Gly
  • NP_001356320.1:p.Asp28Gly
  • NP_001356321.1:p.Asp28Gly
  • NP_001356322.1:p.Asp28Gly
  • NP_001356323.1:p.Asp28Gly
  • NP_004983.1:p.Asp121Gly
  • NP_004983.1:p.Asp121Gly
  • LRG_764t1:c.398A>G
  • LRG_764t2:c.362A>G
  • AJ132917.1:c.362A>G
  • LRG_764:g.109882A>G
  • LRG_764p1:p.Asp133Gly
  • LRG_764p2:p.Asp121Gly
  • NC_000023.10:g.153297673T>C
  • NG_007107.2:g.109906A>G
  • NM_004992.3:c.362A>G
Protein change:
D121G
Links:
dbSNP: rs61755762
NCBI 1000 Genomes Browser:
rs61755762
Molecular consequence:
  • NM_001386137.1:c.-199A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001386138.1:c.-199A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001386139.1:c.-199A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001110792.2:c.398A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001316337.2:c.83A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369391.2:c.83A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369392.2:c.83A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369393.2:c.83A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369394.2:c.83A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004992.4:c.362A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000188066RettBASE
no assertion criteria provided
Uncertain significance
(Dec 8, 2005) 		unknowncuration

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownnot provided1not providednot provided1not providedcuration

Details of each submission

From RettBASE, SCV000188066.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedcurationnot provided

Description

Not known

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot provided1Bloodnot provided1not providednot providednot provided

Last Updated: Apr 15, 2024