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Variant (rsID / SNP)

rs145478892

TCTN1

rs145478892 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TCTN1. Location: chromosome 12, position 111,057,718. 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
12:111057718
Cytoband
12q24.11
HGVS
NM_001082538.3(TCTN1):c.298G>A (p.Val100Met)
Allele change
Missense_V44M

Associated conditions / phenotypes

Joubert syndrome 13|Meckel-Gruber syndrome|Joubert syndrome

Public references

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