Variant #0000140783 (NC_000023.10:g.(18665453_18674772)_(18779695_18797127)del, RS1(NM_000330.3):c.-35_(184+1_185-1){0})

Individual ID 00087273
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.(18665453_18674772)_(18779695_18797127)del
DNA change (hg38) g.(18647333_18656652)_(18761577_18779009)del
Published as -
ISCN -
DB-ID RS1_000123 See all 3 reported entries
Variant remarks 136 kb deletion from PPEF intron 9 to RS1 intron 3 also involving CDKL5 (STK9)
Reference PubMed: Huopaniemi
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Ivo F.A.C. Fokkema
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RS1 NM_000330.3 +/. _1_3i c.-35_(184+1_185-1){0} r.0? p.0?
CDKL5 NM_003159.2 +/. 19i_ c.(2797+1243_2798-1)_*85{0} r.? p.?
PPEF1 NM_006240.2 +/. _1_9i c.-481_(558+1_559-1){0} r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000087413 DNA PCR;Southern - - RS1 1 Johan den Dunnen