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Variant (rsID / SNP)

rs118203986

CCT5

rs118203986 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCT5. Location: chromosome 5, position 10,256,175. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CCT5Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:10256175
Cytoband
5p15.2
HGVS
NM_012073.5(CCT5):c.440A>G (p.His147Arg)
Allele change
Missense_H92R

Associated conditions / phenotypes

Hereditary sensory and autonomic neuropathy with spastic paraplegia

Public references

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