Genomic variant #0000079435

Individual ID 00050510
Chromosome 16
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.15494704_16388460del
DNA change (hg38) g.15400847_16294603del
Published as -
ISCN -
DB-ID MYH11_000003
Variant remarks decreased gene dosage
Reference PubMed: DDDS 2015, Journal: DDDS 2015
ClinVar ID -
dbSNP ID -
Origin Germline
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     
NOMO3 NM_001004067.3 ./. - c.-831820_*304del - r.? p.?
MYH11 NM_001040113.1 ./. - c.-437680_*303285del - r.? p.?
ABCC6 NM_001171.5 ./. - c.-71169_*749286del - r.? p.?
ABCC1 NM_004996.3 ./. - c.-548905_*153322del - r.? p.?
KIAA0430 NM_014647.3 ./. - c.-651644_*195846del - r.? p.?
NDE1 NM_017668.2 ./. - c.-249491_*570352del - r.? p.?
C16orf45 NM_033201.2 ./. - c.-33807_*707774del - r.? p.?
FOPNL NM_144600.2 ./. - c.-406018_*466593del - r.? p.?
MPV17L NM_173803.3 ./. - c.310+4640_*886567del - r.? p.?
MIR484 NR_030159.1 ./. - n.-242447_*651231del - r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050455 DNA SEQ;SEQ-NG-I - - - 1 Johan den Dunnen