Variant #0000079484 (NC_000009.11:g.204104_8198999del, GLDC(NM_000170.2):c.-1553500_*6328913del)

Individual ID 00050559
Chromosome 9
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.204104_8198999del
DNA change (hg38) g.204104_8198999del
Published as -
ISCN -
DB-ID GLDC_000111
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 (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Enzyme activity     
GLDC NM_000170.2 ./. - c.-1553500_*6328913del r.0? p.0? -
KIAA2026 NM_001017969.2 ./. - c.-2191212_*5715580del r.0? p.0? -
SPATA6L NM_001039395.3 ./. - c.-3532571_*4396707del r.0? p.0? -
KIAA1432 NM_001135920.2 ./. - c.-5425206_*2429669del r.0? p.0? -
INSL4 NM_002195.1 ./. - c.-5027420_*2965122del r.0? p.0? -
RFX3 NM_002919.2 ./. - c.-4673328_*3043772del r.0? p.0? -
SMARCA2 NM_003070.3 ./. - c.-1811337_*6006260del r.0? p.0? -
VLDLR NM_003383.3 ./. - c.-2418086_*5545131del r.0? p.0? -
SLC1A1 NM_004170.5 ./. - c.-4286576_*3613441del r.0? p.0? -
JAK2 NM_004972.3 ./. - c.-4781635_*3072208del r.0? p.0? -
MLANA NM_005511.1 ./. - c.-5686858_*2290291del r.0? p.0? -
RCL1 NM_005772.3 ./. - c.-4588988_*3338724del r.0? p.0? -
DMRT2 NM_006557.6 ./. - c.-846716_*7143225del r.0? p.0? -
RLN1 NM_006911.2 ./. - c.-2859253_*5131147del r.0? p.0? -
INSL6 NM_007179.2 ./. - c.-3013397_*4959809del r.0? p.0? -
RANBP6 NM_012416.2 ./. - c.-2183392_*5808186del r.0? p.0? -
CD274 NM_014143.3 ./. - c.-5246507_*2731137del r.0? p.0? -
KIAA0020 NM_014878.4 ./. - c.-5354965_*2600227del r.0? p.0? -
KDM4C NM_015061.3 ./. - c.-6554117_*1024270del r.0? p.0? -
KANK1 NM_015158.3 ./. - c.-300734_*7453764del r.0? p.0? -
AK3 NM_016282.3 ./. - c.-3457912_*4508872del r.0? p.0? -
CDC37L1 NM_017913.2 ./. - c.-4475664_*3492887del r.0? p.0? -
PLGRKT NM_018465.3 +/. - c.-2761343_*5154135del r.0? p.0? -
DMRT3 NM_021240.2 ./. - c.-772898_*7207994del r.0? p.0? -
DMRT1 NM_021951.2 ./. - c.-637735_*7230860del r.0? p.0? -
ERMP1 NM_024896.2 ./. - c.-2365972_*5583040del r.0? p.0? -
PDCD1LG2 NM_025239.3 ./. - c.-5306714_*2629040del r.0? p.0? -
IL33 NM_033439.3 ./. - c.-6011760_*1942831del r.0? p.0? -
TPD52L3 NM_033516.5 ./. - c.-6124492_*1869981del r.0? p.0? -
KCNV2 NM_133497.3 ./. - c.-2513636_*5469272del r.0? p.0? -
RLN2 NM_134441.1 ./. - c.-2894419_*5095994del r.0? p.0? -
C9orf66 NM_152569.2 ./. - c.-7983603_*10405del r.0? p.0? -
GLIS3 NM_152629.3 ./. - c.-4047010_*3624168del r.0? p.0? -
UHRF2 NM_152896.2 ./. - c.-6209387_*1692820del r.0? p.0? -
DOCK8 NM_203447.3 +/. - c.-10873_*7734780del r.0? p.0? -
PPAPDC2 NM_203453.3 ./. - c.-4458272_*3535736del r.0? p.0? -
GLIS3-AS1 NR_026663.1 ./. - n.-3694542_*4297751del r.0? p.0? -
MIR101-2 NR_029836.1 ./. - n.-4646193_*3348624del r.0? p.0? -
MIR4665 NR_039811.1 ./. - n.-5803722_*2191095del r.0? p.0? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050504 DNA SEQ;SEQ-NG-I - - - 1 Johan den Dunnen