ClinVar Genomic variation as it relates to human health
NM_001110792.2(MECP2):c.1076_1102del (p.Lys359_Ser367del)
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
MECP2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1884 | 2211 |
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 rs2065930340 ...
HelpRecord last updated Jan 26, 2024