ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p13.3(chr1:110662135-111401322)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 | |||
KCNA10 | - | - |
GRCh38 GRCh37 |
40 | 60 | |
KCNA2 | - | - |
GRCh38 GRCh37 |
464 | 486 | |
KCNA3 | - | - |
GRCh38 GRCh37 |
43 | 68 | |
KCNC4 | - | - |
GRCh38 GRCh37 |
52 | 71 | |
LAMTOR5 | - | - |
GRCh38 GRCh37 |
3 | 26 | |
PROK1 | - | - |
GRCh38 GRCh37 |
10 | 30 | |
RBM15 | - | - |
GRCh38 GRCh37 |
27 | 68 | |
SLC16A4 | - | - |
GRCh38 GRCh37 |
22 | 41 | |
SLC6A17 | - | - |
GRCh38 GRCh37 |
70 | 98 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 29, 2021 | RCV002474868.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022