Variant (rsID / SNP)
rs766816072
rs766816072 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHKB. Location: chromosome 22, position 51,019,100. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
CHKBConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- Deletion
- Chromosome / position
- 22:51019100
- Cytoband
- 22q13.33
- HGVS
- NM_005198.5(CHKB):c.582-13_582-11del
Associated conditions / phenotypes
Congenital Muscular Dystrophy, CHKB-related|Megaconial type congenital muscular dystrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.