Variant (rsID / SNP)

rs121908429

rs121908429 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC12A6. Location: chromosome 15, position 34,549,914. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

SLC12A6Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:34549914
Cytoband: 15q14
HGVS: NM_001365088.1(SLC12A6):c.619C>T (p.Arg207Cys)
Allele change: Missense_R198C

Associated conditions / phenotypes

Agenesis of the corpus callosum with peripheral neuropathy|Charcot-Marie-Tooth disease

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.