Variant (rsID / SNP)

rs192522753

rs192522753 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTC19. Location: chromosome 17, position 15,930,690. Clinical significance in the table: Uncertain significance.

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Reference-table entries

TTC19Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 17:15930690
Cytoband: 17p12
HGVS: NM_017775.4(TTC19):c.997C>T (p.Arg333Ter)
Allele change: Nonsense_R226X

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.