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Variant (rsID / SNP)

rs139927033

TCTN2

rs139927033 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TCTN2. Location: chromosome 12, position 124,171,453. 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
12:124171453
Cytoband
12q24.31
HGVS
NM_024809.5(TCTN2):c.635A>G (p.Asn212Ser)
Allele change
Missense_N212S

Associated conditions / phenotypes

Meckel syndrome, type 8|Joubert syndrome 24|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.