Variant (rsID / SNP)

rs201850378

rs201850378 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MIB1. Location: chromosome 18, position 19,395,685. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MIB1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 18:19395685
Cytoband: 18q11.2
HGVS: NM_020774.4(MIB1):c.1588C>T (p.Arg530Ter)
Allele change: Nonsense_R530X

Associated conditions / phenotypes

Left ventricular noncompaction 7

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.