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Variant (rsID / SNP)

rs117204561

CLIC5

rs117204561 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLIC5. Location: chromosome 6, position 45,909,364. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CLIC5Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:45909364
Cytoband
6p21.1
HGVS
NM_016929.5(CLIC5):c.326G>A (p.Arg109Gln)
Allele change
Missense_R268Q

Public references

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