Variant (rsID / SNP)

rs201224138

rs201224138 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SUCLG1. Location: chromosome 2, position 84,668,561. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SUCLG1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:84668561
Cytoband: 2p11.2
HGVS: NM_003849.4(SUCLG1):c.341C>T (p.Thr114Met)
Allele change: Missense_T114M

Associated conditions / phenotypes

Mitochondrial DNA depletion syndrome 9

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.