ClinVar Genomic variation as it relates to human health
Single allele
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
LDLR | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
4075 | 4351 | |
LDLR-AS1 | - | - | - | GRCh38 | - | 204 |
LOC126862855 | - | - | - | GRCh38 | - | 16 |
LOC126862856 | - | - | - | GRCh38 | - | 15 |
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