Variant (rsID / SNP)

rs139773124

rs139773124 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTC8. Location: chromosome 14, position 89,338,680. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TTC8Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 14:89338680
Cytoband: 14q31.3
HGVS: NM_144596.4(TTC8):c.1231G>A (p.Gly411Arg)
Allele change: Missense_G213R

Associated conditions / phenotypes

Bardet-Biedl 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.