Variant (rsID / SNP)

rs190657514

rs190657514 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MIB1. Location: chromosome 18, position 19,345,879. Clinical significance in the table: Likely benign.

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Reference-table entries

MIB1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 18:19345879
Cytoband: 18q11.2
HGVS: NM_020774.4(MIB1):c.376C>T (p.Arg126Ter)
Allele change: Nonsense_R126X

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.