Genomic variant #0000079463

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.650816_2804129del
DNA change (hg38) -
Published as -
ISCN -
DB-ID SMCHD1_000093
Variant remarks mosaicism, hemizygous in 0.44 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     

DNA change (cDNA)     

Exon     

Haplotype     

ClassClinical     

RNA change     

Protein     
C18orf56 NM_001012716.2 ./. c.-2145882_*35-852del - - - r.? p.?
TYMS NM_001071.2 ./. c.-6927_*2131132del - - - r.0? p.0?
ADCYAP1 NM_001117.3 ./. c.-254572_*1894493del - - - r.0? p.0?
YES1 NM_005433.3 ./. c.-1992023_*73608del - - - r.0? p.0?
NDC80 NM_006101.2 ./. c.-1920876_*187556del - - - r.0? p.0?
SMCHD1 NM_015295.2 ./. c.-2005259_*1579del - - pathogenic r.? p.?
ENOSF1 NM_017512.5 ./. c.-2091542_*23489del - - - r.0? p.0?
METTL4 NM_022840.3 ./. c.-233420_*1888183del - - - r.0? p.0?
LINC00470 NR_023925.1 ./. n.-1444499_*617496del - - - r.0? p.0?
CBX3P2 NR_033754.2 ./. n.-148735_*2001353del - - - 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