Variant (rsID / SNP)

rs387907570

rs387907570 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MEFV. Location: chromosome 16, position 3,293,427. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MEFVConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 16:3293427
Cytoband: 16p13.3
HGVS: NM_000243.3(MEFV):c.2060G>A (p.Gly687Asp)
Allele change: Missense_G687D

Associated conditions / phenotypes

Familial Mediterranean fever

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.