Variant (rsID / SNP)

rs121908575

rs121908575 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BCS1L. Location: chromosome 2, position 219,525,843. 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: 2:219525843
Cytoband: 2q35
HGVS: NM_001079866.2(BCS1L):c.133C>T (p.Arg45Cys)
Allele change: Missense_R45C

Associated conditions / phenotypes

Mitochondrial complex III deficiency nuclear type 1

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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