Variant (rsID / SNP)

rs117896500

rs117896500 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TCTN1. Location: chromosome 12, position 111,066,587. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TCTN1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:111066587
Cytoband: 12q24.11
HGVS: NM_001082538.3(TCTN1):c.488C>A (p.Ser163Tyr)
Allele change: Missense_S107Y

Associated conditions / phenotypes

Meckel-Gruber syndrome|Joubert 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.