Variant (rsID / SNP)

rs879255275

rs879255275 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MAFB. Location: chromosome 20, position 39,316,688. Clinical significance in the table: Pathogenic.

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Reference-table entries

MAFBPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 20:39316688
Cytoband: 20q12
HGVS: NM_005461.5(MAFB):c.803del (p.Asn268fs)

Associated conditions / phenotypes

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

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.