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Variant (rsID / SNP)

rs79251326

TCTN2

rs79251326 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TCTN2. Location: chromosome 12, position 124,171,417. 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
12:124171417
Cytoband
12q24.31
HGVS
NM_024809.5(TCTN2):c.599G>A (p.Arg200Gln)
Allele change
Missense_R200Q

Associated conditions / phenotypes

Joubert syndrome|Meckel-Gruber syndrome|Meckel syndrome, type 8|Joubert syndrome 24

Public references

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