Variant (rsID / SNP)

rs202054484

rs202054484 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C19ORF12, C19orf12. Location: chromosome 19, position 30,193,829. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

C19ORF12Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:30193829
Cytoband: 19q12
HGVS: NM_031448.6(C19orf12):c.216G>A (p.Pro72=)
Allele change: Synonymous_P8P

Associated conditions / phenotypes

Hereditary spastic paraplegia 43|Neurodegeneration with brain iron accumulation 4

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.