Variant (rsID / SNP)
rs28937590
rs28937590 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BCS1L. Location: chromosome 2, position 219,525,942. Clinical significance in the table: Pathogenic.
Reference-table entries
BCS1LPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:219525942
- Cytoband
- 2q35
- HGVS
- NM_001079866.2(BCS1L):c.232A>G (p.Ser78Gly)
- Allele change
- Missense_S78G
Associated conditions / phenotypes
GRACILE syndrome|Mitochondrial complex III deficiency nuclear type 1|Pili torti-deafness syndrome|Leigh syndrome|GRACILE syndrome|Mitochondrial complex III deficiency nuclear type 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.