Variant (rsID / SNP)

rs6470252

rs6470252 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MTSS1. Location: chromosome 8, position 125,579,990. Clinical significance in the table: Benign.

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Reference-table entries

MTSS1Benign

Clinical significance (as recorded): Benign
Variant type: intron_variant
Chromosome / position: 8:125579990
HGVS: NM_001282971.2,c.631-571G>A
Allele change: Silent

Associated conditions / phenotypes

Mitochondrial Complex I Deficiency, Nuclear Type 24

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.