ClinVar Genomic variation as it relates to human health
NM_001267803.1(PAAF1):c.*451_*70114dup
Germline
Classification
(1)
not provided
no classification 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 | |||
DNAJB13 | - | - |
GRCh38 GRCh37 |
155 | 182 | |
LOC130006402 | - | - | - | GRCh38 | - | 6 |
LOC130006403 | - | - | - | GRCh38 | - | 11 |
LOC130006404 | - | - | - | GRCh38 | - | 6 |
LOC130006405 | - | - | - | GRCh38 | - | 5 |
LOC130006406 | - | - | - | GRCh38 | - | 4 |
LOC130006407 | - | - | - | GRCh38 | - | 4 |
LOC130006408 | - | - | - | GRCh38 | - | 4 |
PAAF1 | - | - |
GRCh38 GRCh37 |
26 | 50 | |
UCP2 | - | - |
GRCh38 GRCh37 |
71 | 90 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
not provided (1) |
|
- | RCV000161633.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 23, 2024