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Variant (rsID / SNP)

rs142340643

CCS

rs142340643 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCS. Location: chromosome 11, position 66,368,018. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CCSUncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
11:66368018
Cytoband
11q13.2
HGVS
NM_005125.2(CCS):c.487C>T (p.Arg163Trp)
Allele change
Missense_R163W

Associated conditions / phenotypes

Neurodegeneration

Public references

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