Variant (rsID / SNP)

rs1057521110

rs1057521110 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MEN1. Location: chromosome 11, position 64,575,134. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

MEN1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:64575134
Cytoband: 11q13.1
HGVS: NM_001370259.2(MEN1):c.673G>A (p.Gly225Arg)
Allele change: Missense_G230R

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.