Genomic variant #0000079546

Individual ID 00050621
Chromosome 6
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.73709065_76815249del
DNA change (hg38) -
Published as -
ISCN -
DB-ID KHDC3L_000005
Variant remarks decreased gene dosage
Reference PubMed: DDDS 2015, Journal: DDDS 2015
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 Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     
KHDC3L NM_001017361.2 ./. - c.-363388_*2741666del - r.0? p.0? -
DPPA5 NM_001025290.2 ./. - c.-2751301_*353978del - r.0? p.0? -
OOEP NM_001080507.2 ./. - c.-2735734_*369442del - r.0? p.0? -
KHDC1L NM_001126063.2 ./. - c.-2880118_*224406del - r.0? p.0? -
EEF1A1 NM_001402.5 ./. - c.-2584557_*518468del - r.0? p.0? -
IMPG1 NM_001563.2 ./. - c.-33044_*2922741del - r.0? p.0? -
COX7A2 NM_001865.3 ./. - c.-861703_*2238581del - r.0? p.0? -
COL12A1 NM_004370.5 ./. - c.-899792_*2087198del - r.0? p.0? -
MYO6 NM_004999.3 ./. - c.-2750123_*190520del - r.0? p.0? -
SLC17A5 NM_012434.4 ./. - c.-2451640_*595735del - r.0? p.0? -
SENP6 NM_015571.2 ./. - c.-2603176_*389939del - r.0? p.0? -
FILIP1 NM_015687.2 ./. - c.-612126_*2309342del - r.0? p.0? -
TMEM30A NM_018247.3 ./. - c.-820895_*2256753del - r.0? p.0? -
DDX43 NM_018665.2 ./. - c.-395564_*2688365del - r.0? p.0? -
KCNQ5 NM_019842.3 ./. - c.399-4566_*2910112del - - - -
KHDC1 NM_030568.3 ./. - c.-2842766_*242187del - r.0? p.0? -
CD109 NM_133493.3 ./. - c.-696874_*2281892del - r.0? p.0? -
MTO1 NM_133645.2 ./. - c.-462513_*2604791del - r.0? p.0? -
MB21D1 NM_138441.2 ./. - c.-2653345_*425885del - r.0? p.0? -
MIR4463 NR_039670.1 ./. - n.-2429058_*677060del - r.0? p.0? -
KCNQ5-AS1 NR_046621.1 ./. - n.-2962012_*135461del - r.0? p.0? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050566 DNA SEQ;SEQ-NG-I - - - 1 Johan den Dunnen