Variant (rsID / SNP)

rs7212549

rs7212549 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to B9D1. Location: chromosome 17, position 19,246,667. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

B9D1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:19246667
Cytoband: 17p11.2
HGVS: NM_015681.6(B9D1):c.580T>C (p.Leu194=)
Allele change: Silent

Associated conditions / phenotypes

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