Variant (rsID / SNP)

rs7137946

rs7137946 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TCTN2. Location: chromosome 12, position 124,177,289. Clinical significance in the table: Benign.

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Reference-table entries

TCTN2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 12:124177289
Cytoband: 12q24.31
HGVS: NM_024809.5(TCTN2):c.1099+19T>C
Allele change: Silent

Associated conditions / phenotypes

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

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.