Genomic variant #0000001313

Individual ID 00000029
Chromosome X
Allele Both (homozygous)
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.153292180T>C
DNA change (hg38) g.154026729T>C
Published as -
ISCN -
DB-ID MECP2_000014 See all 3 reported entries
Variant remarks -
Reference PubMed: Almomani 2011 dbSNP
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MECP2 NM_001110792.1 ./. - c.*3638A>G - r.(=) p.(=)
MECP2 NM_004992.3 -?/. 4 c.*3638A>G - r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000029 DNA NGS - - ALG9, ASPM, B3GLCT, BBS1, CBS, CC2D1A, CDK5RAP2, DLG3, DNMT3B, DPM1, DPP3, GLI3, JAG1, KRAS, MECP2, MPDU1, NLGN4X, NSD1, PHF8, PMM2, RAI1, REST, SATB2, SCN8A, SHANK3, SLC35C1, TCF4, TSC1, UPF3B, ZEB2, ZNF41 46 LOVD-team, but with Curator vacancy