Variant (rsID / SNP)

rs34088631

rs34088631 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to B9D2. Location: chromosome 19, position 41,863,821. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

B9D2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:41863821
Cytoband: 19q13.2
HGVS: NM_030578.4(B9D2):c.195C>T (p.Phe65=)
Allele change: Synonymous_F65F

Associated conditions / phenotypes

Joubert syndrome|Meckel-Gruber 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.