Variant (rsID / SNP)

rs147741073

rs147741073 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MCCC1. Location: chromosome 3, position 182,810,265. Clinical significance in the table: Pathogenic.

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Reference-table entries

MCCC1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:182810265
Cytoband: 3q27.1
HGVS: NM_020166.5(MCCC1):c.205A>T (p.Lys69Ter)
Allele change: Silent

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.