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Variant (rsID / SNP)

rs144567556

TCTN2

rs144567556 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TCTN2. Location: chromosome 12, position 124,172,643. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TCTN2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:124172643
Cytoband
12q24.31
HGVS
NM_024809.5(TCTN2):c.810C>T (p.Asp270=)
Allele change
Synonymous_D270D

Associated conditions / phenotypes

Joubert syndrome 24|Meckel syndrome, type 8|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.