Variant (rsID / SNP)

rs121908577

rs121908577 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BCS1L. Location: chromosome 2, position 219,526,569. 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: 2:219526569
Cytoband: 2q35
HGVS: NM_001079866.2(BCS1L):c.548G>A (p.Arg183His)
Allele change: Missense_R183H

Associated conditions / phenotypes

Pili torti-deafness syndrome|Leigh syndrome|GRACILE syndrome|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.