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NM_001110792.2(MECP2):c.63-8C>G AND not provided

Germline classification:
no classifications from unflagged records (1 submission)
Review status:
no classifications from unflagged records
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:
RCV000144096.3

Allele description [Variation Report for NM_001110792.2(MECP2):c.63-8C>G]

NM_001110792.2(MECP2):c.63-8C>G

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.63-8C>G
HGVS:
  • NC_000023.11:g.154032565G>C
  • NG_007107.3:g.109539C>G
  • NM_001110792.2:c.63-8C>GMANE SELECT
  • NM_001316337.2:c.-253-8C>G
  • NM_001369391.2:c.-253-8C>G
  • NM_001369392.2:c.-253-8C>G
  • NM_001369393.2:c.-253-8C>G
  • NM_001369394.2:c.-253-8C>G
  • NM_001386137.1:c.-534-8C>G
  • NM_001386138.1:c.-534-8C>G
  • NM_001386139.1:c.-534-8C>G
  • NM_004992.4:c.27-8C>G
  • LRG_764t1:c.63-8C>G
  • LRG_764t2:c.27-8C>G
  • AJ132917.1:c.27-8C>G
  • LRG_764:g.109539C>G
  • NC_000023.10:g.153298016G>C
  • NG_007107.2:g.109563C>G
  • NM_004992.3:c.27-8C>G
Links:
dbSNP: rs267608410
NCBI 1000 Genomes Browser:
rs267608410
Molecular consequence:
  • NM_001110792.2:c.63-8C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001316337.2:c.-253-8C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369391.2:c.-253-8C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369392.2:c.-253-8C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369393.2:c.-253-8C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369394.2:c.-253-8C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386137.1:c.-534-8C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386138.1:c.-534-8C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386139.1:c.-534-8C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004992.4:c.27-8C>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
No clinical assertions found. See "Flagged submissions" below.
Help

Summary from all submissions

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

Details of each submission

From RettBASE, SCV000189172.1

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

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000189172RettBASE
flagged submission
Reason: This record appears to be redundant with a more recent record from the same submitter.
Notes: SCV000189172 appears to be redundant with SCV000222597.
not providednot providednot provided

Last Updated: Apr 15, 2024