ClinVar Genomic variation as it relates to human health
NM_000559.2(HBG1):c.[227C>T;410C>G]
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 | 77 | |
LOC106099064 | - | - | - | GRCh38 | - | 42 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
HEMOGLOBIN F (CHARLOTTE)
|
other (1) |
|
Jul 15, 2011 | RCV000016180.10 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 03, 2024