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Variant (rsID / SNP)

rs587777011

FAM111A

rs587777011 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FAM111A. Location: chromosome 11, position 58,920,847. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

FAM111APathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
11:58920847
Cytoband
11q12.1
HGVS
NM_001312909.2(FAM111A):c.1706G>A (p.Arg569His)
Allele change
Missense_R569H

Associated conditions / phenotypes

Autosomal dominant Kenny-Caffey syndrome|Osteocraniostenosis|Osteocraniostenosis|Autosomal dominant Kenny-Caffey syndrome|Inborn genetic diseases

Public references

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