Variant (rsID / SNP)

rs63751197

rs63751197 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MLH1. Location: chromosome 3, position 37,061,904. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

MLH1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: Deletion
Chromosome / position: 3:37061904
Cytoband: 3p22.2
HGVS: NM_000249.4(MLH1):c.988_990del (p.Ile330del)

Associated conditions / phenotypes

Lynch syndrome 1

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.