Variant #0000826991 (NC_000020.10:g.9200001_17900000del, JAG1(NM_000214.2):c.(?_-516)_(*1814_?)del)

Individual ID 00394356
Chromosome 20
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.9200001_17900000del
DNA change (hg38) g.9200001_17900000del
Published as JAG1 del20p12.1-p12.2,
ISCN -
DB-ID JAG1_000783
Variant remarks heterozygous
Reference PubMed: Thorsteinsson 2021
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
JAG1 NM_000214.2 +/. - c.(?_-516)_(*1814_?)del r.0? p.0?
PLCB4 NM_000933.3 +/. - c.-88461_*8440344del r.0? p.0?
SLX4IP NM_001009608.1 +/. - c.-1216130_*7295973del r.0? p.0?
DSTN NM_001011546.1 +/. - c.-8351036_*312209del r.0? p.0?
RRBP1 NM_001042576.1 +/. - c.-237426_*8394826del r.0? p.0?
BFSP1 NM_001195.3 +/. - c.-388026_*8274718del r.0? p.0?
KIF16B NM_001199865.1 +/. - c.-1346080_*7053897del r.0? p.0?
PCSK2 NM_002594.3 +/. - c.-8007950_*437285del r.0? p.0?
SNRPB2 NM_003092.4 +/. - c.-7510844_*1178350del r.0? p.0?
LAMP5 NM_012261.3 +/. - c.-295499_*8389533del r.0? p.0?
FLRT3 NM_013281.3 +/. - c.-3582003_*5106202del r.0? p.0?
BTBD3 NM_014962.2 +/. - c.-2698923_*5995686del r.0? p.0?
ESF1 NM_016649.3 +/. - c.-4134576_*4495520del r.0? p.0?
TASP1 NM_017714.2 +/. - c.-4280534_*4171006del r.0? p.0?
SPTLC3 NM_018327.2 +/. - c.-3789915_*4754486del r.0? p.0?
OTOR NM_020157.2 +/. - c.-7529046_*1168237del r.0? p.0?
PAK7 NM_020341.3 +/. - c.-8080858_*320108del r.0? p.0?
ANKEF1 NM_022096.4 +/. - c.-816089_*7863692del r.0? p.0?
NDUFAF5 NM_024120.4 +/. - c.-4565714_*4102144del r.0? p.0?
MACROD2 NM_080676.5 +/. - c.-4776409_*1869479del r.0? p.0?
ISM1 NM_080826.1 +/. - c.-4002423_*4619894del r.0? p.0?
SNAP25 NM_130811.2 +/. - c.-999688_*7613155del r.0? p.0?
MKKS NM_170784.2 +/. - c.-7485893_*1185894del r.0? p.0?
BANF2 NM_178477.4 +/. - c.-8480866_*183544del r.0? p.0?
MACROD2-AS1 NR_037841.2 +/. - n.-2989858_*5664898del r.0? p.0?
ISM1-AS1 NR_040043.1 +/. - n.-4679666_*4018066del - -
SNAP25-AS1 NR_040710.1 +/. - n.-7699846_*804459del r.0? p.0?
SEL1L2 NR_073207.1 +/. - n.-3924021_*4630043del r.0? p.0?
LINC00687 XR_109647.3 +/. - n.-6047354_*2590634del r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000395603 DNA SEQ-NG - retrospective analysis JAG1 1 LOVD