Genomic variant #0000000183

Individual ID 00000066
Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.5247905dup
DNA change (hg38) g.5226675dup
Published as -
ISCN -
DB-ID HBB_001186 See all 3 reported entries
Variant remarks -
Reference -
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 Gerard C.P. Schaafsma
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
HBB NM_000518.4 +/. 2 c.217dup - r.(?) p.(Ser73Lysfs*2)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000066 DNA SEQ-NG - - AHI1, ATP7B, HBB, HEXB, IDUA, MPL, NHLRC1, NPHS1, PKHD1, PMM2, SERPINA1, TTN 14 Global Variome, with Curator vacancy