ClinVar Genomic variation as it relates to human health
Hb Kenya
Germline
Classification
(1)
other
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
HBG1 | - | - |
GRCh38 GRCh37 |
16 | 74 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
HEMOGLOBIN KENYA
|
other (1) |
|
Jul 15, 2011 | RCV000016170.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024
NCBI staff provided an HGVS expression for Hb Kenya from the sequence across the breakpoint in Figure 1 of the paper by Waye et al., 1992 (PubMed 1283810).