ClinVar Genomic variation as it relates to human health
NM_001291867.2(NHS):c.111del (p.Leu38fs)
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
NHS | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
523 | 706 |
Conditions - Germline
There are no conditions for this variant because no interpretation for the single variant has been submitted to ClinVar yet.
Citations for germline classification of this variant
HelpConditions - Somatic
There are no conditions for this variant because no interpretation for the single variant has been submitted to ClinVar yet.
Citations for somatic classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jan 26, 2024