ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3p25.1-24.3(chr3:15304910-16372771)x3
Germline
Classification
(1)
Likely benign
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 | |||
ANKRD28 | - | - |
GRCh38 GRCh37 |
6 | 61 | |
BTD | - | - |
GRCh38 GRCh37 |
645 | 705 | |
COLQ | - | - |
GRCh38 GRCh37 |
563 | 588 | |
DPH3 | - | - |
GRCh38 GRCh37 |
1 | 27 | |
EAF1 | - | - |
GRCh38 GRCh37 |
14 | 37 | |
GALNT15 | - | - |
GRCh38 GRCh37 |
42 | 68 | |
HACL1 | - | - |
GRCh38 GRCh37 |
40 | 70 | |
LOC112935902 | - | - | - | GRCh38 | - | 10 |
LOC121009652 | - | - | - | GRCh38 | - | 9 |
LOC121725131 | - | - | - | GRCh38 | - | 10 |
There are 35 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 |
---|---|---|---|---|
Likely benign (1) |
|
Mar 24, 2014 | RCV000143403.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023