ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q21.3(chr1:153939571-153978276)x1
Germline
Classification
(1)
Pathogenic
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 | |||
CREB3L4 | - | - |
GRCh38 GRCh37 |
19 | 36 | |
CRTC2 | - | - |
GRCh38 GRCh37 |
36 | 55 | |
DENND4B | - | - |
GRCh38 GRCh37 |
108 | 127 | |
JTB | - | - |
GRCh38 GRCh37 |
6 | 23 | |
JTB-DT | - | - | - | GRCh38 | - | 4 |
LOC122128433 | - | - | - | GRCh38 | - | 4 |
LOC126805871 | - | - | - | GRCh38 | - | 4 |
LOC129931487 | - | - | - | GRCh38 | - | 4 |
LOC129931488 | - | - | - | GRCh38 | - | 4 |
LOC129931489 | - | - | - | GRCh38 | - | 4 |
There are 8 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053884.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023