Variant (rsID / SNP)

rs144946502

rs144946502 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SUCLG1, DNAH6. Location: chromosome 2, position 84,686,432. 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: 2:84686432
Cytoband: 2p11.2
HGVS: NM_003849.3(SUCLG1):c.-39C>A
Allele change: Silent

Associated conditions / phenotypes

Mitochondrial DNA depletion syndrome|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.