Variant (rsID / SNP)

rs147579870

rs147579870 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNM2. Location: chromosome 19, position 10,886,521. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

DNM2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:10886521
Cytoband: 19p13.2
HGVS: NM_001005361.3(DNM2):c.528C>T (p.Pro176=)
Allele change: Synonymous_P176P

Associated conditions / phenotypes

Autosomal dominant centronuclear myopathy|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.