ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p31.1(chr1:74129905-74702475)x3
Germline
Classification
(1)
Likely benign
criteria provided, single submitter
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 | |||
FPGT | - | - |
GRCh38 GRCh37 |
- | 79 | |
FPGT-TNNI3K | - | - | - |
GRCh38 GRCh37 |
- | 1097 |
LRRIQ3 | - | - |
GRCh38 GRCh37 |
52 | 79 | |
TNNI3K | - | - |
GRCh38 GRCh37 |
- | 1045 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Likely benign (1) |
|
Apr 12, 2018 | RCV001007449.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022