Variant (rsID / SNP)

rs879255277

rs879255277 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MAFB. Location: chromosome 20, position 39,316,847. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MAFBPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 20:39316847
Cytoband: 20q12
HGVS: NM_005461.5(MAFB):c.644del (p.Gln215fs)

Associated conditions / phenotypes

Duane syndrome type 1|Duane retraction syndrome 2|Duane retraction syndrome 3 with or without deafness

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.