Variant (rsID / SNP)

rs145754412

rs145754412 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SARS2, MRPS12. Location: chromosome 19, position 39,421,347. Clinical significance in the table: Pathogenic.

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Reference-table entries

SARS2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:39421347
Cytoband: 19q13.2
HGVS: NM_017827.4(SARS2):c.30G>A (p.Trp10Ter)
Allele change: Nonsense_W10X

Associated conditions / phenotypes

Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome

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.