Variant #0000096769 (NC_000011.9:g.5248384C>T, HBB(NM_000518.4):c.-133G>A)

Individual ID 00064970
Chromosome 11
Allele Parent #1
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.5248384C>T
DNA change (hg38) g.5227154C>T
Published as -
ISCN -
DB-ID HBB_003005 See all 13 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs72561473
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Andreas Laner
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
HBB NM_000518.4 ?/. 1 c.-133G>A - r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000065114 DNA SEQ - - HBB 1 Andreas Laner