ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p36.13(chr1:16773001-20221073)x1
Germline
Classification
(1)
Pathogenic
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 | |||
SDHB | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
1292 | 1407 | |
ACTL8 | - | - | - |
GRCh38 GRCh37 |
20 | 44 |
AKR7A2 | - | - |
GRCh38 GRCh37 |
24 | 46 | |
AKR7A3 | - | - |
GRCh38 GRCh37 |
37 | 59 | |
AKR7L | - | - |
GRCh38 GRCh37 |
- | 22 | |
ALDH4A1 | - | - |
GRCh38 GRCh37 |
273 | 330 | |
ARHGEF10L | - | - |
GRCh38 GRCh37 |
81 | 102 | |
ATP13A2 | - | - |
GRCh38 GRCh38 GRCh37 |
1030 | 1065 | |
CAPZB | - | - |
GRCh38 GRCh37 |
7 | 32 | |
CROCC | - | - |
GRCh38 GRCh38 GRCh37 |
218 | 247 |
There are 30 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
May 1, 2021 | RCV001829114.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023