Variant #0000079559 (NC_000001.10:g.20540741_22890410del, ALPL(NM_000478.4):c.-1295374_*986269del)

Individual ID 00050634
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.20540741_22890410del
DNA change (hg38) g.20214248_22563917del
Published as -
ISCN -
DB-ID HSPG2_000007
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     

Enzyme activity     
ALPL NM_000478.4 ./. - c.-1295374_*986269del r.0? p.0? -
LDLRAD2 NM_001013693.2 ./. - c.-1598204_*741702del r.? p.? -
VWA5B1 NM_001039500.2 ./. - c.-76867_*2209654del r.? p.? -
CDC42 NM_001039802.1 ./. - c.-1838671_*472400del r.0? p.0? -
SH2D5 NM_001103160.1 ./. - c.-1831902_*507544del r.? p.? -
ECE1 NM_001397.2 ./. - c.-1273503_*1005707del r.? p.? -
CDA NM_001785.2 ./. - c.-374882_*1945349del r.? p.? -
RAP1GAP NM_002885.2 ./. - c.-894812_*1383051del r.? p.? -
EIF4G3 NM_003760.4 ./. - c.-1513118_*593071del r.0? p.0? -
DDOST NM_005216.4 ./. - c.-1902516_*438131del r.? p.? -
HSPG2 NM_005529.5 ./. - c.-626700_*1609068del r.? p.? -
CELA3A NM_005747.4 ./. - c.-1787427_*551450del r.? p.? -
CELA3B NM_007352.2 ./. - c.-1762792_*574638del r.? p.? -
ZBTB40 NM_014870.3 ./. - c.-2237826_*37521del r.? p.? -
HP1BP3 NM_016287.3 ./. - c.-1777369_*530549del r.? p.? -
CAMK2N1 NM_018584.5 ./. - c.-2078538_*269401del r.? p.? -
EPHA8 NM_020526.3 ./. - c.-2349388_94+188del r.? p.? -
KIF17 NM_020816.2 ./. - c.-1846211_*450336del r.? p.? -
MUL1 NM_024544.2 ./. - c.-2055893_*286442del r.? p.? -
WNT4 NM_030761.4 ./. - c.-420995_*1905802del r.? p.? -
USP48 NM_032236.5 ./. - c.-780960_*1465169del r.? p.? -
NBPF3 NM_032264.3 ./. - c.-1226240_*1080531del r.? p.? -
PINK1 NM_032409.2 ./. - c.-419301_*1913226del r.? p.? -
FAM43B NM_207334.2 ./. - c.-338726_*2009954del r.? p.? -
LINC00339 NR_023918.1 ./. - n.-1810966_*532694del r.0? p.0? -
MIR1256 NR_031657.1 ./. - n.-1575485_*774066del r.0? p.0? -
MIR4418 NR_039613.1 ./. - n.-2051991_*297617del r.0? p.0? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050579 DNA SEQ;SEQ-NG-I - - - 1 Johan den Dunnen