ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p32.3(chr1:51729573-55164001)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 | |||
ACOT11 | - | - |
GRCh38 GRCh37 |
50 | 136 | |
BTF3L4 | - | - | - |
GRCh38 GRCh37 |
6 | 16 |
CC2D1B | - | - | - |
GRCh38 GRCh37 |
90 | 98 |
CDCP2 | - | - |
GRCh38 GRCh37 |
42 | 56 | |
COA7 | - | - |
GRCh38 GRCh37 |
43 | 68 | |
CPT2 | - | - |
GRCh38 GRCh37 |
899 | 1027 | |
CYB5RL | - | - | - |
GRCh38 GRCh37 |
14 | 28 |
CZIB | - | - | - |
GRCh38 GRCh37 |
- | 15 |
DIO1 | - | - |
GRCh38 GRCh37 |
16 | 30 | |
DMRTB1 | - | - |
GRCh38 GRCh37 |
39 | 50 |
There are 34 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
- | RCV000447334.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024