Variant (rsID / SNP)

rs116754410

rs116754410 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CD2AP. Location: chromosome 6, position 47,591,941. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CD2APBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:47591941
Cytoband: 6p12.3
HGVS: NM_012120.3(CD2AP):c.1898A>G (p.Lys633Arg)
Allele change: Missense_K633R

Associated conditions / phenotypes

Focal segmental glomerulosclerosis 3, susceptibility to

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.