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Variant (rsID / SNP)

rs149000560

FERMT3

rs149000560 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FERMT3. Location: chromosome 11, position 63,974,966. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FERMT3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:63974966
Cytoband
11q13.1
HGVS
NM_031471.6(FERMT3):c.130G>A (p.Gly44Arg)
Allele change
Missense_G44R

Associated conditions / phenotypes

Leukocyte adhesion deficiency 3

Public references

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