Variant (rsID / SNP)

rs188817098

rs188817098 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TCTN1. Location: chromosome 12, position 111,080,154. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TCTN1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 12:111080154
Cytoband: 12q24.11
HGVS: NM_001082538.3(TCTN1):c.1291G>C (p.Val431Leu)
Allele change: Missense_V431L

Associated conditions / phenotypes

Joubert syndrome|Meckel-Gruber syndrome|Joubert syndrome 13

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.