Genomic variant #0000000613

Individual ID 00000093
Chromosome 16
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
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




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

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     
0000000093 DNA SEQ-NG - - ATP7A, ATP7B, GLB1, HBA1, SERPINA1, SMPD1 7 LOVD-team, but with Curator vacancy