Variant (rsID / SNP)

rs183973249

rs183973249 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM70. Location: chromosome 8, position 74,893,388. Clinical significance in the table: Pathogenic.

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Reference-table entries

TMEM70Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:74893388
Cytoband: 8q21.11
HGVS: NM_017866.6(TMEM70):c.317-2A>G
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.