Variant (rsID / SNP)
rs377025174
rs377025174 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BCS1L. Location: chromosome 2, position 219,525,915. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
BCS1LConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:219525915
- Cytoband
- 2q35
- HGVS
- NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys)
- Allele change
- Missense_R69C
Associated conditions / phenotypes
Mitochondrial complex III deficiency nuclear type 1|Inborn genetic diseases|GRACILE syndrome|Pili torti-deafness 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.