Variant (rsID / SNP)

rs376555330

rs376555330 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MRE11. Location: chromosome 11, position 94,180,444. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MRE11Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:94180444
Cytoband: 11q21
HGVS: NM_005591.4(MRE11):c.1724G>T (p.Gly575Val)
Allele change: Missense_G575D

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia-like disorder|Ataxia-telangiectasia-like disorder 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.