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Variant (rsID / SNP)

rs201299216

B9D1

rs201299216 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to B9D1. Location: chromosome 17, position 19,250,610. 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
17:19250610
Cytoband
17p11.2
HGVS
NM_015681.6(B9D1):c.376T>A (p.Ser126Thr)
Allele change
Missense_S126T

Associated conditions / phenotypes

Meckel syndrome, type 9|Meckel-Gruber syndrome|Joubert syndrome

Public references

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