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Variant (rsID / SNP)

rs113840224

SUCLG1

rs113840224 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SUCLG1. Location: chromosome 2, position 84,652,653. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SUCLG1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:84652653
Cytoband
2p11.2
HGVS
NM_003849.4(SUCLG1):c.900C>T (p.Ala300=)
Allele change
Synonymous_A300A

Associated conditions / phenotypes

Mitochondrial DNA depletion syndrome|Mitochondrial DNA depletion syndrome 9

Public references

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