ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4q35.2(chr4:186218358-187484068)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 | |||
F11 | - | - |
GRCh38 GRCh37 |
485 | 799 | |
F11-AS1 | - | - | - | GRCh38 | - | 232 |
FAT1 | - | - |
GRCh38 GRCh37 |
995 | 1326 | |
KLKB1 | - | - |
GRCh38 GRCh37 |
100 | 324 | |
LINC02374 | - | - | - | GRCh38 | - | 61 |
LINC02514 | - | - | - | GRCh38 | - | 59 |
LINC02515 | - | - | - | GRCh38 | - | 59 |
LOC121725196 | - | - | - | GRCh38 | - | 59 |
LOC123493253 | - | - | - | GRCh38 | - | 59 |
LOC126807252 | - | - | - | GRCh38 | - | 60 |
There are 15 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000050554.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024