Variant (rsID / SNP)

rs374349989

rs374349989 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TCTN2. Location: chromosome 12, position 124,184,249. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

TCTN2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:124184249
Cytoband: 12q24.31
HGVS: NM_024809.5(TCTN2):c.1506-2A>G
Allele change: Silent

Associated conditions / phenotypes

Meckel syndrome, type 8|TCTN2-Related Disorders|Meckel syndrome, type 6

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.