ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q21.2(chr1:148004766-149754410)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 | |||
FAM72C | - | - |
GRCh38 GRCh37 |
- | 33 | |
FCGR1A | - | - |
GRCh38 GRCh37 |
- | 39 | |
H2BC18 | - | - | - |
GRCh38 GRCh37 |
2 | 42 |
NBPF15 | - | - |
GRCh38 GRCh37 |
70 | 117 | |
PPIAL4C | - | - | - |
GRCh38 GRCh37 |
1 | 22 |
PPIAL4D | - | - | - |
GRCh38 GRCh37 |
2 | 74 |
PPIAL4E | - | - |
GRCh38 GRCh37 |
14 | 60 | |
PPIAL4F | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 44 |
TRH-GTG2-1 | - | - | - | GRCh37 | 20 | 62 |
TRN-GTT2-7 | - | - |
GRCh38 GRCh37 |
1 | 72 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Benign (1) |
|
- | RCV000447369.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024