Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs147840220

SLC25A22

rs147840220 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC25A22. Location: chromosome 11, position 792,555. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

SLC25A22Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:792555
Cytoband
11p15.5
HGVS
NM_001191061.2(SLC25A22):c.585C>T (p.Leu195=)
Allele change
Synonymous_L195L

Associated conditions / phenotypes

Early myoclonic encephalopathy|Early infantile epileptic encephalopathy with suppression bursts

Public references

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