Variant (rsID / SNP)

rs75295961

rs75295961 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FERMT3. Location: chromosome 11, position 63,987,441. Clinical significance in the table: Likely benign.

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Reference-table entries

FERMT3Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:63987441
Cytoband: 11q13.1
HGVS: NM_031471.6(FERMT3):c.1158C>G (p.Ser386Arg)
Allele change: Missense_S390R

Associated conditions / phenotypes

Leukocyte adhesion deficiency 3

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.