Variant (rsID / SNP)

rs11557652

rs11557652 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCT5. Location: chromosome 5, position 10,256,172. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CCT5Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:10256172
Cytoband: 5p15.2
HGVS: NM_012073.5(CCT5):c.437A>T (p.Glu146Val)
Allele change: Missense_E91V

Associated conditions / phenotypes

Hereditary sensory and autonomic neuropathy with spastic paraplegia

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.