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Variant (rsID / SNP)

rs77122016

SLC12A6

rs77122016 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC12A6. Location: chromosome 15, position 34,546,655. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SLC12A6Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
15:34546655
Cytoband
15q14
HGVS
NM_001365088.1(SLC12A6):c.1012C>T (p.Arg338Cys)
Allele change
Missense_R329C

Associated conditions / phenotypes

Agenesis of the corpus callosum with peripheral neuropathy

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.