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Variant (rsID / SNP)

rs200133991

C19ORF12C19orf12

rs200133991 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C19ORF12, C19orf12. Location: chromosome 19, position 30,199,197. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

C19ORF12Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
19:30199197
Cytoband
19q12
HGVS
NM_031448.6(C19orf12):c.124G>A (p.Gly42Arg)
Allele change
Silent

Associated conditions / phenotypes

Neurodegeneration|Brain iron accummulation|Hereditary spastic paraplegia|Hereditary spastic paraplegia 43

Public references

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