Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs146076380

CEP135

rs146076380 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CEP135. Location: chromosome 4, position 56,884,001. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

CEP135Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
4:56884001
Cytoband
4q12
HGVS
NM_025009.5(CEP135):c.2990C>T (p.Ser997Leu)
Allele change
Missense_S997L

Public references

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