Variant (rsID / SNP)

rs752450983

rs752450983 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C19ORF12, C19orf12. Location: chromosome 19, position 30,193,884. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

C19ORF12Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:30193884
Cytoband: 19q12
HGVS: NM_031448.6(C19orf12):c.161G>T (p.Gly54Val)
Allele change: Silent

Associated conditions / phenotypes

Intellectual disability|Global developmental delay|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.