Variant (rsID / SNP)

rs141498429

rs141498429 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MTMR2. Location: chromosome 11, position 95,621,320. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MTMR2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: Deletion
Chromosome / position: 11:95621320
Cytoband: 11q21
HGVS: NM_016156.6(MTMR2):c.184_186del (p.Arg62del)

Associated conditions / phenotypes

Charcot-Marie-Tooth disease type 4

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.