Variant (rsID / SNP)

rs200246335

rs200246335 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BSND. Location: chromosome 1, position 55,472,706. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

BSNDConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 1:55472706
Cytoband: 1p32.3
HGVS: NM_057176.3(BSND):c.309G>C (p.Glu103Asp)
Allele change: Missense_E103D

Associated conditions / phenotypes

Bartter disease type 4a|Bartter 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.