Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs200820631

TMEM70

rs200820631 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM70. Location: chromosome 8, position 74,893,528. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

TMEM70Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
8:74893528
Cytoband
8q21.11
HGVS
NM_017866.6(TMEM70):c.455C>T (p.Thr152Met)
Allele change
Silent

Associated conditions / phenotypes

Mitochondrial complex V (ATP synthase) deficiency nuclear type 2

Public references

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