Genomic variant #0000079307

Individual ID 00050382
Chromosome 7
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.23187650_32932034del
DNA change (hg38) -
Published as -
ISCN -
DB-ID ADCYAP1R1_000001
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




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
HOXA13 NM_000522.4 ./. - c.-5692338_*4050167del - r.0? p.0?
GHRHR NM_000823.3 ./. - c.-7816034_*1913175del - r.0? p.0?
NPY NM_000905.3 ./. - c.-1136245_*8600728del - r.0? p.0?
GPNMB NM_001005340.1 ./. - c.-98827_*9618191del - r.0? p.0?
KLHL7 NM_001031710.2 ./. - c.793+4006_*9718117del - r.? p.?
WIPF3 NM_001080529.2 ./. - c.-6658702_*2977902del - r.0? p.0?
ADCYAP1R1 NM_001118.4 ./. - c.-7904715_*1785736del - r.0? p.0?
LSM5 NM_001130710.1 ./. - c.-397234_*9339223del - r.0? p.0?
C7orf71 NM_001145531.1 ./. - c.-3490556_*6245875del - r.0? p.0?
AQP1 NM_001185060.1 ./. - c.-7773304_*1968790del - r.0? p.0?
PDE1C NM_001191056.1 ./. - c.-822029_*8642210del - r.0? p.0?
SNX10 NM_001199835.1 ./. - c.-3144127_*6519842del - r.0? p.0?
CRHR2 NM_001202475.1 ./. - c.-2192385_*7505426del - r.0? p.0?
EVX1 NM_001989.3 ./. - c.-4095000_*5645990del - r.0? p.0?
GARS NM_002047.2 ./. - c.-7446888_*2258558del - r.0 p.0
HNRNPA2B1 NM_002137.3 ./. - c.-6691837_*3044330del - r.0? p.0?
HOXA4 NM_002141.4 ./. - c.-5761682_*3981194del - r.0? p.0?
SKAP2 NM_003930.3 ./. - c.0 - r.0 p.0
CHN2 NM_004067.2 ./. - c.-6046908_*3379683del - r.0? p.0?
NFE2L3 NM_004289.6 ./. - c.-3004469_*6706631del - r.0? p.0?
DFNA5 NM_004403.2 ./. - c.-8134728_*1550995del - r.0? p.0?
CREB5 NM_004904.2 ./. - c.-5287676_*4073138del - r.0? p.0?
HOXA1 NM_005522.4 ./. - c.-5796503_*3946409del - r.0? p.0?
HOXA11 NM_005523.5 ./. - c.-5707271_*4034765del - r.0? p.0?
TAX1BP1 NM_006024.6 ./. - c.-4592246_*5063586del - r.0? p.0?
NOD1 NM_006092.2 ./. - c.-2414164_*7277604del - r.0? p.0?
IGF2BP3 NM_006547.2 ./. - c.-9422305_*164331del - r.0? p.0?
PPP1R17 NM_006658.4 ./. - c.-8539307_*1185137del - r.0? p.0?
HOXA2 NM_006735.3 ./. - c.-5789915_*3952695del - r.0? p.0?
INMT NM_006774.4 ./. - c.0 - r.0? p.0?
HOXA7 NM_006896.3 ./. - c.-5735870_*4006878del - r.0? p.0?
CBX3 NM_007276.4 ./. - c.-3053560_*6680206del - r.0? p.0?
NUPL2 NM_007342.2 ./. - c.-34055_*9691670del - r.0? p.0?
TRA2A NM_013293.3 ./. - c.-9360591_*357528del - r.0? p.0?
SCRN1 NM_014766.4 ./. - c.-2902778_*6775923del - r.0? p.0?
TRIL NM_014817.3 ./. - c.-3934372_*5807577del - r.0? p.0?
AVL9 NM_015060.1 ./. - c.-9347672_*308515del - r.0? p.0?
KBTBD2 NM_015483.2 ./. - c.-1225_*9721307del - r.0? p.0?
OSBPL3 NM_015550.2 ./. - c.-7912679_*1652152del - r.0? p.0?
MPP6 NM_016447.2 ./. - c.-1425734_*8204801del - r.0? p.0?
FKBP14 NM_017946.2 +/. _1_4_ c.0 pathogenic r.0 p.0
CYCS NM_018947.5 ./. - c.-7767224_*1975670del - r.0? p.0?
HOXA10 NM_018951.3 ./. - c.-5718109_*4023868del - r.0? p.0?
CPVL NM_019029.2 ./. - c.-3746088_*5847738del - r.0? p.0?
HOXA5 NM_019102.3 ./. - c.-5748808_*3993804del - r.0 p.0
NPVF NM_022150.3 ./. - c.-7663976_*2077091del - r.0? p.0?
NEUROD6 NM_022728.2 ./. - c.-1551849_*8190219del - r.0? p.0?
HOXA6 NM_024014.3 ./. - c.-5744666_*3997627del - r.0? p.0?
GGCT NM_024051.3 ./. - c.-2387709_*7349058del - r.0? p.0?
HOXA3 NM_030661.4 ./. - c.-5773020_*3959884del - r.0? p.0?
STK31 NM_031414.4 ./. - c.-562255_*9060049del - r.0? p.0?
FAM188B NM_032222.2 ./. - c.-7623460_*2000414del - r.0? p.0?
PLEKHA8 NM_032639.3 ./. - c.-6880729_*2802243del - r.0? p.0?
MALSU1 NM_138446.1 ./. - c.-151322_*9582872del - r.0? p.0?
CCDC126 NM_138771.3 ./. - c.-449805_*9249300del - r.0? p.0?
C7orf31 NM_138811.3 ./. - c.-7712778_*1987941del - r.0? p.0?
ZNRF2 NM_147128.3 ./. - c.-7137324_*2526406del - r.0? p.0?
HOXA9 NM_152739.3 ./. - c.-5726958_*4015572del - r.0? p.0?
HIBADH NM_152740.3 ./. - c.-5229627_*4378183del - r.0? p.0?
JAZF1 NM_175061.3 ./. - c.-4711838_*4684769del - r.0? p.0?
PRR15 NM_175887.2 ./. - c.-6416489_*3325699del - r.0? p.0?
CCDC129 NM_194300.3 ./. - c.-8396995_*1239591del - r.0? p.0?
FAM221A NM_199136.3 ./. - c.-532188_*9190251del - r.0? p.0?
CLK2P NR_002711.3 ./. - n.0 - r.0? p.0?
HOXA11-AS NR_002795.2 ./. - n.0 - r.0 p.0
ZNRF2P1 NR_003502.2 ./. - n.0 - r.0? p.0?
KIAA0087 NR_022006.1 ./. - n.-6353590_*3385090del - r.0? p.0?
RPS2P32 NR_026676.1 ./. - n.0 - r.0? p.0?
ZNRF2P2 NR_027347.1 ./. - n.-3206597_*6536738del - r.0? p.0?
MIR148A NR_029597.1 ./. - n.0 - r.0? p.0?
MIR196B NR_029911.1 ./. - n.0 - r.0? p.0?
MIR550A1 NR_030319.1 ./. - n.0 - r.0? p.0?
MIR550A2 NR_030320.1 ./. - n.0 - r.0? p.0?
JAZF1-AS1 NR_034097.1 ./. - n.-5032426_*4651038del - r.0? p.0?
DPY19L2P3 NR_036482.1 ./. - n.-6537120_*3204175del - r.0? p.0?
LINC00997 NR_036501.1 ./. - n.-9610248_*129498del - r.0? p.0?
DPY19L1P1 NR_036680.1 ./. - n.0 - r.0? p.0?
MIR550B1 NR_037513.1 ./. - n.0 - r.0? p.0?
MIR550B2 NR_037514.1 ./. - n.0 - r.0? p.0?
INMT-FAM188B NR_037598.1 ./. - n.0 - r.0? p.0?
HOTTIP NR_037843.2 ./. - n.-0 - r.0? p.0?
HOTAIRM1 NR_038366.1 ./. - n.0 - r.0 p.0
HOXA-AS3 NR_038831.1 ./. - n.0 - r.0? p.0?
MIR550A3 NR_039600.1 ./. - n.0 - r.0? p.0?
HOXA-AS4 NR_046609.1 ./. - n.0 - r.0? p.0?
HOXA-AS2 XR_108755.2 ./. - n.0 - r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050327 DNA SEQ;SEQ-NG-I - - - 1 Johan den Dunnen