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Variant (rsID / SNP)

rs121908578

BCS1L

rs121908578 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BCS1L. Location: chromosome 2, position 219,526,571. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

BCS1LConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:219526571
Cytoband
2q35
HGVS
NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys)
Allele change
Missense_R184C

Associated conditions / phenotypes

Bjornstad syndrome with mild mitochondrial complex III deficiency|Mitochondrial complex III deficiency nuclear type 1|Leigh syndrome|GRACILE syndrome

Public references

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