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Variant (rsID / SNP)

rs140236960

NDUFS7

rs140236960 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFS7. Location: chromosome 19, position 1,388,862. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NDUFS7Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
19:1388862
Cytoband
19p13.3
HGVS
NM_024407.5(NDUFS7):c.153C>T (p.Ala51=)
Allele change
Synonymous_A51A

Associated conditions / phenotypes

Mitochondrial complex I deficiency, nuclear type 1|Leigh syndrome

Public references

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