Variant #0000079469 (NC_000021.8:g.35304067_36866011del, KCNE1(NM_000219.4):c.-982063_*517476del)

Individual ID 00050544
Chromosome 21
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.35304067_36866011del
DNA change (hg38) -
Published as -
ISCN -
DB-ID CLIC6_000001
Variant remarks decreased gene dosage
Reference PubMed: DDDS 2015, Journal: DDDS 2015
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
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 Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNE1 NM_000219.4 ./. - c.-982063_*517476del r.0? p.0?
RUNX1 NM_001754.4 +/. - c.-444606_*860365del r.0? p.0?
RCAN1 NM_004414.5 ./. - c.-878701_*586315del r.0? p.0?
SLC5A3 NM_006933.4 ./. - c.-142315_*1396357del r.0? p.0?
MRPS6 NM_032476.3 ./. - c.-141934_*1351111del r.0? p.0?
CLIC6 NM_053277.1 ./. - c.-737621_*777231del r.0? p.0?
KCNE2 NM_172201.1 ./. - c.-432396_*1122862del r.0? p.0?
LINC00160 NR_024351.2 ./. - n.-756532_*792038del r.0? p.0?
RUNX1-IT1 NR_026812.1 ./. - n.-454288_*1106155del r.0? p.0?
LINC00310 NR_027266.1 ./. - n.-248911_*1303791del r.0? p.0?
LINC00649 NR_038883.1 ./. - n.531+21_*1522524del - -
LINC00650 XR_109667.1 ./. - n.-17163_*1529751del r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050489 DNA SEQ;SEQ-NG-I - - - 1 Johan den Dunnen