Variant (rsID / SNP)

rs138897437

rs138897437 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TCTN2. Location: chromosome 12, position 124,171,472. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TCTN2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:124171472
Cytoband: 12q24.31
HGVS: NM_024809.5(TCTN2):c.654C>T (p.Leu218=)
Allele change: Synonymous_L218L

Associated conditions / phenotypes

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

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.