Variant #0000079353 (NC_000022.10:g.47182944_51666786del, NM_000487.5:c.-600579_*3880629del (ARSA))

Individual ID 00050428
Chromosome 22
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.47182944_51666786del
DNA change (hg38) -
Published as -
ISCN -
DB-ID ALG12_000022
Variant remarks mosaicism, hemizygous in 0.56 cells
Reference PubMed: DDDS 2015, Journal: DDDS 2015
ClinVar ID -
dbSNP ID -
Origin Somatic
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2015-09-27 16:16:40 +02:00 (CEST)
Date last edited 2024-12-27 10:36:26 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Protein level     
ARSA NM_000487.5 +/. - c.-600579_*3880629del r.0? p.0? -
IL17REL NM_001001694.2 +/. - c.-1215963_*3252390del r.0? p.0? -
DENND6B NM_001001794.3 +/. - c.-901369_*3567624del r.0? p.0? -
PIM3 NM_001001852.3 +/. - c.-3171652_*1310011del r.0? p.0? -
RABL2B NM_001003789.1 +/. - c.-444915_*4024260del r.0? p.0? -
ODF3B NM_001014440.3 +/. - c.-695915_*3785965del r.0? p.0? -
ACR NM_001097.2 +/. - c.-3993720_*483151del r.0? p.0? -
SYCE3 NM_001123225.1 +/. - c.-665500_*3806730del r.0? p.0? -
CPT1B NM_001145134.1 +/. - c.-649828_*3824569del r.0? p.0? -
TYMP NM_001257988.1 +/. - c.-698499_*3781255del r.0? p.0? -
MAPK11 NM_002751.5 +/. - c.-958065_*3520433del r.0? p.0? -
MAPK12 NM_002969.3 +/. - c.-966848_*3508886del r.0? p.0? -
SBF1 NM_002972.2 +/. - c.-753517_*3702627del r.0? p.0? -
SCO2 NM_005138.2 +/. - c.-702899_*3779096del r.0? p.0? -
CHKB NM_005198.4 +/. - c.-645576_*3834666del r.0? p.0? -
MAPK8IP2 NM_012324.3 +/. - c.-3856304_*617579del r.0? p.0? -
PLXNB2 NM_012401.2 +/. - c.-920878_*3531189del r.0? p.0? -
TBC1D22A NM_014346.2 +/. - c.63-5473_*4097517del r.? p.? -
BRD1 NM_014577.1 +/. - c.-1448821_*2984937del r.0? p.0? -
PPP6R2 NM_014678.4 +/. - c.-3599183_*784110del r.0? p.0? -
ZBED4 NM_014838.2 +/. - c.-3065023_*1385960del r.0? p.0? -
MLC1 NM_015166.3 +/. - c.-1143062_*3317068del r.0? p.0? -
FAM19A5 NM_015381.5 +/. - c.-1789349_*2521127del r.0? p.0? -
MIOX NM_017584.5 +/. - c.-3742383_*738501del r.0? p.0? -
MOV10L1 NM_018995.2 +/. - c.-3345574_*1066908del r.0? p.0? -
TUBGCP6 NM_020461.3 +/. - c.-983898_*3473221del r.0? p.0? -
ALG12 NM_024105.3 +/. - c.-1354954_*3114542del r.0? p.0? -
CRELD2 NM_024324.3 +/. - c.-3129474_*1345831del r.0? p.0? -
ADM2 NM_024866.5 +/. - c.-3737333_*745454del r.0? p.0? -
TRABD NM_025204.2 +/. - c.-3441521_*1029838del r.0? p.0? -
HDAC10 NM_032019.5 +/. - c.-977325_*3500992del r.0? p.0? -
LMF2 NM_033200.2 +/. - c.-720682_*3758876del r.0? p.0? -
SHANK3 NM_033517.1 +/. - c.-3930126_*497046del r.0? p.0? -
PANX2 NM_052839.3 +/. - c.-3426216_*1049080del r.0? p.0? -
KLHDC7B NM_138433.3 +/. - c.-3803652_*678406del r.0? p.0? -
NCAPH2 NM_152299.3 +/. - c.-3763823_*704982del r.0? p.0? -
CHKB-AS1 NR_021492.1 +/. - n.-3838511_*644430del r.0? p.0? -
RPL23AP82 NR_026981.1 +/. - n.-4012570_*428721del r.0? p.0? -
C22orf34 NR_026997.1 +/. - n.-1615596_*2830346del r.0? p.0? -
CHKB-CPT1B NR_027928.2 +/. - n.-645358_*3824346del r.0? p.0? -
LINC00898 NR_033377.1 +/. - n.-3639468_*833848del r.0? p.0? -
MIR3201 NR_036172.1 +/. - n.-1487232_*2996559del r.0? p.0? -
MIR3667 NR_037440.1 +/. - n.-1729672_*2754097del r.0? p.0? -
MIR4535 NR_039761.1 +/. - n.-1993163_*2490621del r.0? p.0? -
TTLL8 XM_003403494.2 +/. - c.-1170121_*3283082del r.0? p.0? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050373 DNA SEQ;SEQ-NG-I - - - 1 Johan den Dunnen


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.