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Variant (rsID / SNP)

rs142938748

TTC8

rs142938748 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTC8. Location: chromosome 14, position 89,338,702. 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
14:89338702
Cytoband
14q31.3
HGVS
NM_144596.4(TTC8):c.1253A>G (p.Gln418Arg)
Allele change
Missense_Q220R

Associated conditions / phenotypes

Bardet-Biedl syndrome|Retinitis pigmentosa|Bardet-Biedl syndrome 8

Public references

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