ClinVar Genomic variation as it relates to human health
NC_000020.11:g.44649961_44653216del
Germline
Classification
(1)
Pathogenic
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 | |||
ADA | - | - |
GRCh38 GRCh37 |
530 | 684 | |
LOC107303343 | - | - | - | GRCh38 | - | 143 |
LOC108167311 | - | - | - | GRCh38 | - | 3 |
LOC108167312 | - | - | - | GRCh38 | - | 3 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 1, 1997 | RCV000002037.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 07, 2023
NCBI staff provided HGVS expressions for allelic variant 608958.0008 from the sequence across the breakpoint reported in Figure 3 of the paper by Berkvens et al., 1990 (PubMed 1696926).