Variant (rsID / SNP)

rs35583475

rs35583475 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC12A6. Location: chromosome 15, position 34,546,704. Clinical significance in the table: Benign.

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Reference-table entries

SLC12A6Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 15:34546704
Cytoband: 15q14
HGVS: NM_001365088.1(SLC12A6):c.963C>T (p.Tyr321=)
Allele change: Synonymous_Y312Y

Associated conditions / phenotypes

Agenesis of the corpus callosum with peripheral neuropathy

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.