Variant (rsID / SNP)

rs140916001

rs140916001 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC12A6. Location: chromosome 15, position 34,543,180. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SLC12A6Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 15:34543180
Cytoband: 15q14
HGVS: NM_001365088.1(SLC12A6):c.1412G>C (p.Ser471Thr)
Allele change: Missense_S462T

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.