Variant (rsID / SNP)

rs267606772

rs267606772 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNM2. Location: chromosome 19, position 10,904,475. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

DNM2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:10904475
Cytoband: 19p13.2
HGVS: NM_001005361.3(DNM2):c.1072G>A (p.Gly358Arg)
Allele change: Missense_G358R

Associated conditions / phenotypes

Autosomal dominant Charcot-Marie-Tooth disease type 2M|Charcot-Marie-Tooth disease dominant intermediate B

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.