ClinVar Genomic variation as it relates to human health
NC_000014.9:g.105643212dup
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 | |||
IGH |
|
- | - |
GRCh38 GRCh38 GRCh37 |
10 | 179 |
IGHG2 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 74 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Feb 1, 1998 | RCV000015931.26 |
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 147110.0001 from the sequence reported in Figure 3 of the paper by Tashita et al., 1998 (PubMed 9449702) and the statement the location was in IGHG2.