Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs187433682

TCTN2

rs187433682 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TCTN2. Location: chromosome 12, position 124,179,406. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

TCTN2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:124179406
Cytoband
12q24.31
HGVS
NM_024809.5(TCTN2):c.1117G>A (p.Gly373Arg)
Allele change
Missense_G373R

Associated conditions / phenotypes

Joubert syndrome|Meckel syndrome, type 8|Joubert syndrome 24

Public references

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