Variant (rsID / SNP)

rs121908427

rs121908427 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC12A6. Location: chromosome 15, position 34,528,920. Clinical significance in the table: Pathogenic.

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Reference-table entries

SLC12A6Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:34528920
Cytoband: 15q14
HGVS: NM_001365088.1(SLC12A6):c.3031C>T (p.Arg1011Ter)
Allele change: Nonsense_R1002X

Associated conditions / phenotypes

Agenesis of the corpus callosum with peripheral neuropathy|See cases

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.