ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q44(chr1:246853199-249181899)x1
Germline
Classification
(1)
Likely 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 | |||
AHCTF1 | - | - |
GRCh38 GRCh37 |
116 | 209 | |
GCSAML | - | - | - |
GRCh38 GRCh37 |
3 | 106 |
LINC02897 | - | - | - |
GRCh38 GRCh37 |
4 | 87 |
LYPD8 | - | - |
GRCh38 GRCh37 |
- | 75 | |
NLRP3 | - | - |
GRCh38 GRCh38 GRCh37 |
965 | 1048 | |
OR11L1 | - | - | - |
GRCh38 GRCh37 |
18 | 112 |
OR13G1 | - | - |
GRCh38 GRCh37 |
23 | 108 | |
OR14A16 | - | - | - |
GRCh38 GRCh37 |
24 | 119 |
OR14C36 | - | - | - |
GRCh38 GRCh37 |
11 | 99 |
OR14I1 | - | - |
GRCh38 GRCh38 GRCh37 |
2 | 79 |
There are 45 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Jul 2, 2020 | RCV001259601.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023