Variant #0000079620 (NC_000001.10:g.93811483_98850435del, ABCA4(NM_000350.2):c.-4263834_*647310del)

Individual ID 00050695
Chromosome 1
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.93811483_98850435del
DNA change (hg38) -
Published as -
ISCN -
DB-ID DPYD_000017
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     

Haplotype     
DPYD NM_000110.3 ./. - c.-463957_*3733049del r.? p.? -
ABCA4 NM_000350.2 ./. - c.-4263834_*647310del r.? p.? -
TMEM56-RWDD3 NM_001199691.1 ./. - c.-1772176_*3140629del r.0? p.0? -
BCAR3 NM_001261408.1 ./. - c.-4538018_*216315del r.? p.? -
CNN3 NM_001839.3 ./. - c.-3457985_*1551815del r.? p.? -
DR1 NM_001938.2 ./. - c.-720_*5024239del r.? p.? -
F3 NM_001993.4 ./. - c.-3843243_*1184533del r.? p.? -
GCLM NM_002061.2 ./. - c.-4475716_*543063del r.? p.? -
ABCD3 NM_002858.3 ./. - c.-1072552_*3867750del r.? p.? -
ARHGAP29 NM_004815.3 ./. - c.-4147497_*827942del r.? p.? -
DNTTIP2 NM_014597.4 ./. - c.-4505731_*523924del r.? p.? -
RWDD3 NM_015485.4 ./. - c.-1888304_*3138009del r.? p.? -
FNBP1L NM_017737.4 ./. - c.-102356_*4832462del r.? p.? -
PTBP2 NM_021190.2 ./. - c.-3375938_*1571474del r.? p.? -
ALG14 NM_144988.3 ./. - c.-3311981_*1637149del r.? p.? -
SLC44A3 NM_152369.4 ./. - c.-1474806_*3489957del r.? p.? -
TMEM56 NM_152487.2 ./. - c.-1771702_*3193011del r.? p.? -
MIR137 NR_029679.1 ./. - n.-338708_*4700143del r.0? p.0? -
MIR760 NR_030621.1 ./. - n.-500905_*4537968del r.0? p.0? -
MIR2682 NR_039604.1 ./. - n.-339528_*4699315del r.0? p.0? -
MIR378G NR_039620.1 ./. - n.-3638979_*1399933del r.0? p.0? -
MIR137HG NR_046105.1 ./. - n.-335186_*4642073del r.0? p.0? -
DPYD-AS1 NR_046590.1 ./. - n.-3749996_*1061924del r.0? p.0? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050640 DNA SEQ;SEQ-NG-I - - - 1 Johan den Dunnen