Genomic variant #0000079671

Individual ID 00050538
Chromosome 18
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.13422042_15265500dup
DNA change (hg38) g.13422043_15265501dup
Published as -
ISCN -
DB-ID ANKRD20A5P_000001
Variant remarks mosaicism, copy number 3 in 0.50 cells
Reference PubMed: DDDS 2015, Journal: DDDS 2015
ClinVar ID -
dbSNP ID -
Origin Somatic
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     

Haplotype     
MC2R NM_000529.2 ./. - c.-1350142_*462582dup - r.? p.? -
POTEC NM_001137671.1 ./. - c.-722355_*1089855dup - r.? p.? -
ANKRD30B NM_001145029.1 ./. - c.-1326377_*413021dup - r.? p.? -
RNMT NM_003799.1 ./. - c.-304858_*1505522dup - r.? p.? -
MC5R NM_005913.2 ./. - c.-403723_*1438758dup - r.? p.? -
ZNF519 NM_145287.3 ./. - c.-1133224_*682874dup - r.? p.? -
FAM210A NM_152352.3 ./. - c.-1539201_*244437dup - r.? p.? -
LDLRAD4 NM_181481.4 ./. - c.41-16201_*1619844dup - r.0? p.0? -
CXADRP3 NR_024076.1 ./. - n.-766795_*1055909dup - r.0? p.0? -
CYP4F35P NR_026756.1 ./. - n.-915380_*922977dup - r.0? p.0? -
MIR3156-2 NR_036153.1 ./. - n.-1408123_*435259dup - r.0? p.0? -
MIR4526 NR_039752.1 ./. - n.-189071_*1654301dup - r.0? p.0? -
ANKRD20A5P NR_040113.1 ./. - n.-757054_*1038451dup - r.0? p.0? -
MIR5190 NR_049822.1 ./. - n.-37904_*1805475dup - r.0? p.0? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050483 DNA SEQ;SEQ-NG-I - - - 3 Johan den Dunnen