Variant (rsID / SNP)

rs113669789

rs113669789 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM70. Location: chromosome 8, position 74,890,985. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TMEM70Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 8:74890985
Cytoband: 8q21.11
HGVS: NM_017866.6(TMEM70):c.211-6C>T
Allele change: Silent

Associated conditions / phenotypes

Mitochondrial complex V (ATP synthase) deficiency nuclear type 2

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.