Genomic variant #0000001312

Individual ID 00000026
Chromosome X
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.153296094_153296119del
DNA change (hg38) g.154030643_154030668del
Published as exon 3, c.1160_1185del, P387fs, CHRX:152949313_152949288del
ISCN -
DB-ID MECP2_000012
Variant remarks -
Reference -
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 +?/. 3 c.1196_1221del - r.(?) p.(Pro399Leufs*9)
MECP2 NM_004992.3 +?/. 4 c.1160_1185del - r.(?) p.(Pro387Leufs*9)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000026 DNA SEQ-NG - - AMPD1, ATP7B, CBS, CPT1A, ETFB, GLB1, GRHPR, HEXB, INVS, MECP2, MEFV, NHLRC1, NPHS1, NTRK1, SERPINA1, SLC26A2 17 LOVD-team, but with Curator vacancy