Variant #0000668935 (NC_000023.10:g.(153357809_153363136)_(153364281_153585935)del, NM_004992.3:c.-226_(-174_-98-44)[0] (MECP2))

Individual ID 00304120
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.(153357809_153363136)_(153364281_153585935)del
DNA change (hg38) -
Published as del ex1
ISCN -
DB-ID MECP2_002874
Variant remarks -
Reference PubMed: Wen 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 7/666 cases
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-06-23 17:07:59 +02:00 (CEST)
Date last edited 2020-06-23 18:21:26 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MECP2 NM_004992.3 +/. _1_1i c.-226_(-174_-98-44)[0] r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000305248 DNA SEQ;MLPA - - MECP2 1 Johan den Dunnen


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