ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p36.32(chr1:2563698-2689265)x3
Germline
Classification
(1)
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 | |||
LOC100996583 | - | - | - |
GRCh38 GRCh38 |
- | 59 |
LOC121967050 | - | - | - | GRCh38 | - | 63 |
LOC121967051 | - | - | - | GRCh38 | - | 56 |
LOC129388423 | - | - | - |
GRCh38 GRCh38 |
- | 56 |
MMEL1 | - | - |
GRCh38 GRCh38 GRCh37 |
58 | 202 | |
MMEL1-AS1 | - | - | - |
GRCh38 GRCh38 |
- | 63 |
PRXL2B | - | - | - |
GRCh38 GRCh38 GRCh37 |
14 | 153 |
TNFRSF14 | - | - |
GRCh38 GRCh38 GRCh37 |
48 | 185 | |
TTC34 | - | - | - |
GRCh38 GRCh38 GRCh37 |
62 | 207 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Nov 30, 2010 | RCV000134197.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023