Variant (rsID / SNP)

rs121908531

rs121908531 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNM1L. Location: chromosome 12, position 32,884,052. Clinical significance in the table: Pathogenic.

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Reference-table entries

DNM1LPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:32884052
Cytoband: 12p11.21
HGVS: NM_012062.5(DNM1L):c.1184C>A (p.Ala395Asp)
Allele change: Missense_A395D

Associated conditions / phenotypes

Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1

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.