Variant (rsID / SNP)

rs757863670

rs757863670 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to B9D2. Location: chromosome 19, position 41,863,909. Clinical significance in the table: Pathogenic.

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Reference-table entries

B9D2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:41863909
Cytoband: 19q13.2
HGVS: NM_030578.4(B9D2):c.107T>C (p.Leu36Pro)
Allele change: Missense_L36P

Associated conditions / phenotypes

Joubert syndrome|JOUBERT SYNDROME 34

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.