Variant (rsID / SNP)

rs397514477

rs397514477 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C19ORF12, C19orf12. Location: chromosome 19, position 30,199,322. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

C19ORF12Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:30199322
Cytoband: 19q12
HGVS: NM_031448.6(C19orf12):c.-2C>T
Allele change: Silent

Associated conditions / phenotypes

Neurodegeneration with brain iron accumulation 4|Abnormality of iron homeostasis

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.