Variant (rsID / SNP)

rs144505461

rs144505461 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BSND. Location: chromosome 1, position 55,470,706. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

BSNDBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:55470706
Cytoband: 1p32.3
HGVS: NM_057176.3(BSND):c.189C>T (p.Val63=)
Allele change: Synonymous_V63V

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.