Variant (rsID / SNP)

rs267606721

rs267606721 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFD. Location: chromosome 19, position 863,116. Clinical significance in the table: no interpretation for the single variant.

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Reference-table entries

CFDOther

Clinical significance (as recorded): no interpretation for the single variant
Variant type: single nucleotide variant
Chromosome / position: 19:863116
Cytoband: 19p13.3
HGVS: NM_001928.4(CFD):c.640T>C (p.Cys214Arg)
Allele change: Missense_C221R

Associated conditions / phenotypes

Complement Factor D Deficiency

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.