Variant (rsID / SNP)

rs113897932

rs113897932 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MTMR2. Location: chromosome 11, position 95,578,270. Clinical significance in the table: Benign.

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Reference-table entries

MTMR2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 11:95578270
Cytoband: 11q21
HGVS: NM_016156.6(MTMR2):c.1233G>A (p.Thr411=)
Allele change: Synonymous_T411T

Associated conditions / phenotypes

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

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.