ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16p13.3(chr16:5028859-5255498)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
RBFOX1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
541 | 693 | |
ALG1 | - | - |
GRCh38 GRCh37 |
697 | 907 | |
C16orf89 | - | - | - |
GRCh38 GRCh37 |
4 | 39 |
EEF2KMT | - | - |
GRCh38 GRCh37 |
39 | 158 | |
LINC02164 | - | - | - | GRCh38 | - | 8 |
LOC125146394 | - | - | - | GRCh38 | - | 8 |
LOC126862268 | - | - | - | GRCh38 | - | 13 |
LOC126862269 | - | - | - | GRCh38 | - | 8 |
LOC129390758 | - | - | - | GRCh38 | - | 8 |
LOC130058382 | - | - | - | GRCh38 | - | 10 |
There are 8 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 |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Mar 11, 2013 | RCV000143281.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024