Genomic variant #0000000614

Individual ID 00000070
Chromosome 16
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.201620_232294del
DNA change (hg38) g.151621_182295del
Published as -
ISCN -
DB-ID HBA1_000001 See all 3 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Gerard C.P. Schaafsma
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
HBA2 NM_000517.4 ./. _1_3_ c.-21292_*8695del - r.? p.?
HBA1 NM_000558.3 ?/. _1_3_ c.-37-u25059_*110+d4774del - r.(?) p.?
HBM NM_001003938.3 ./. - c.-14377_*15587del - r.? p.?
HBQ1 NM_005331.4 ./. - c.-28866_*1187del - r.? p.?
HBZ NM_005332.2 ./. - c.-1289_*27895del - r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000070 DNA SEQ-NG - - ACADSB, ATP7B, CFTR, ETFB, HBA1, IGHMBP2, MTHFR, MYO5A, SERPINA1, SLC26A2 10 Global Variome, with Curator vacancy