Variant (rsID / SNP)

rs143811282

rs143811282 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MGME1, SNX5. Location: chromosome 20, position 17,950,588. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MGME1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 20:17950588
Cytoband: 20p11.23
HGVS: NM_052865.4(MGME1):c.86C>G (p.Ser29Cys)
Allele change: Missense_S29C

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.