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Variant (rsID / SNP)

rs863223953

DNM1L

rs863223953 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNM1L. Location: chromosome 12, position 32,884,296. 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
12:32884296
Cytoband
12p11.21
HGVS
NM_012062.5(DNM1L):c.1207C>T (p.Arg403Cys)
Allele change
Missense_R403C

Associated conditions / phenotypes

Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1|Inborn genetic diseases|Optic atrophy 5|Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.