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Variant (rsID / SNP)

rs145970332

TCTN1

rs145970332 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TCTN1. Location: chromosome 12, position 111,078,304. 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
12:111078304
Cytoband
12q24.11
HGVS
NM_001082538.3(TCTN1):c.960C>T (p.Cys320=)
Allele change
Synonymous_C320C

Associated conditions / phenotypes

Joubert syndrome 13|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.