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Variant (rsID / SNP)

rs146170087

C19ORF12C19orf12

rs146170087 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C19ORF12, C19orf12. Location: chromosome 19, position 30,193,654. 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
19:30193654
Cytoband
19q12
HGVS
NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu)
Allele change
Missense_K67E

Associated conditions / phenotypes

Neurodegeneration with brain iron accumulation 4|Dystonic disorder|Tremor|Mental deterioration|Adult-onset night blindness|Peripheral visual field loss|Hereditary spastic paraplegia 43|Neurodegeneration with brain iron accumulation 4|Hereditary spastic paraplegia 5A|Hereditary spastic paraplegia 43|Hereditary spastic paraplegia

Public references

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