ClinVar Genomic variation as it relates to human health
GRCh38/hg38 19q13.2-13.31(chr19:42738659-43237562)x1
Germline
Classification
(1)
Benign/Likely 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 | |||
LOC284344 | - | - | - | GRCh38 | - | 18 |
PSG1 | - | - |
GRCh38 GRCh37 |
71 | 102 | |
PSG11 | - | - |
GRCh38 GRCh37 |
37 | 71 | |
PSG11-AS1 | - | - | - | GRCh38 | - | 37 |
PSG2 | - | - |
GRCh38 GRCh37 |
49 | 76 | |
PSG3 | - | - |
GRCh38 GRCh37 |
67 | 86 | |
PSG4 | - | - |
GRCh38 GRCh37 |
59 | 88 | |
PSG5 | - | - |
GRCh38 GRCh37 |
19 | 67 | |
PSG6 | - | - |
GRCh38 GRCh37 |
66 | 97 | |
PSG7 | - | - |
GRCh38 GRCh37 |
73 | 105 |
There are 2 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
|
Benign/Likely benign (1) |
|
Sep 21, 2012 | RCV000134871.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024