Variant (rsID / SNP)

rs141881558

rs141881558 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CD2AP. Location: chromosome 6, position 47,563,669. 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: 6:47563669
Cytoband: 6p12.3
HGVS: NM_012120.3(CD2AP):c.1181C>A (p.Pro394Gln)
Allele change: Missense_P394Q

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.