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Variant (rsID / SNP)

rs112327353

MTMR2

rs112327353 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MTMR2. Location: chromosome 11, position 95,571,363. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MTMR2Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
11:95571363
Cytoband
11q21
HGVS
NM_016156.6(MTMR2):c.1488C>T (p.Thr496=)
Allele change
Synonymous_T496T

Associated conditions / phenotypes

Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4B1

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.