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Variant (rsID / SNP)

rs771170000

B9D1

rs771170000 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to B9D1. Location: chromosome 17, position 19,263,670. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

B9D1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:19263670
Cytoband
17p11.2
HGVS
NM_015681.6(B9D1):c.95A>G (p.Tyr32Cys)
Allele change
Missense_Y32C

Associated conditions / phenotypes

Joubert syndrome|Joubert syndrome 27|B9D1-Related Disorders

Public references

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