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Variant (rsID / SNP)

rs121908576

BCS1L

rs121908576 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BCS1L. Location: chromosome 2, position 219,525,876. Clinical significance in the table: Pathogenic.

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Reference-table entries

BCS1LPathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
2:219525876
Cytoband
2q35
HGVS
NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter)
Allele change
Nonsense_R56X

Associated conditions / phenotypes

Mitochondrial complex III deficiency nuclear type 1|BCS1L-Related Disorders|GRACILE syndrome|Mitochondrial complex III deficiency nuclear type 1|Pili torti-deafness syndrome|Leigh syndrome|GRACILE syndrome|See cases

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.