ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3p14.3-14.2(chr3:58532827-60193441)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
FHIT | No evidence available | No evidence available |
GRCh38 GRCh37 |
39 | 79 | |
ACOX2 | - | - |
GRCh38 GRCh37 |
207 | 226 | |
CFAP20DC | - | - | - |
GRCh38 GRCh37 |
2 | 32 |
CFAP20DC-AS1 | - | - | - | GRCh38 | - | 18 |
FAM107A | - | - |
GRCh38 GRCh37 |
17 | 36 | |
FAM3D | - | - |
GRCh38 GRCh37 |
11 | 32 | |
FAM3D-AS1 | - | - | - | GRCh38 | - | 8 |
LOC121725147 | - | - | - | GRCh38 | - | 6 |
LOC122965319 | - | - | - | GRCh38 | - | 7 |
LOC126806693 | - | - | - | GRCh38 | - | 7 |
There are 14 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000051469.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024