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Variant (rsID / SNP)

rs368907353

TCTN1

rs368907353 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TCTN1. Location: chromosome 12, position 111,085,069. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TCTN1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:111085069
Cytoband
12q24.11
HGVS
NM_001082538.3(TCTN1):c.1563C>T (p.Tyr521=)
Allele change
Synonymous_Y516Y

Associated conditions / phenotypes

Joubert syndrome|Meckel-Gruber syndrome

Public references

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