ClinVar Genomic variation as it relates to human health
NM_138440.3(VASN):c.1331A>G (p.Gln444Arg)
Germline
Classification
(1)
Likely benign
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 | |||
CORO7 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 125 | |
CORO7-PAM16 | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 202 |
VASN | - | - |
GRCh38 GRCh38 GRCh37 |
- | 114 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Dec 26, 2023 | RCV004480143.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024