Variant (rsID / SNP)

rs55859130

rs55859130 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TCTN3. Location: chromosome 10, position 97,445,357. Clinical significance in the table: Benign.

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Reference-table entries

TCTN3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 10:97445357
Cytoband: 10q24.1
HGVS: NM_015631.6(TCTN3):c.925G>T (p.Ala309Ser)
Allele change: Missense_A309S

Associated conditions / phenotypes

Orofacial-digital syndrome IV|Joubert syndrome 18

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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