DNM1 Chromosome 9

Dynamin 1
96 variants 96 Health Risk

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What This Gene Does
This gene encodes a member of the dynamin subfamily of GTP-binding proteins. The encoded protein possesses unique mechanochemical properties used to tubulate and sever membranes, and is involved in clathrin-mediated endocytosis and other vesicular trafficking processes. Actin and other cytoskeletal proteins act as binding partners for the encoded protein, which can also self-assemble leading to stimulation of GTPase activity. More than sixty highly conserved copies of the 3' region of this gene are found elsewhere in the genome, particularly on chromosomes Y and 15. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Pleckstrin homology domain containing|Dynamins"
Locus Type
gene with protein product
Location
9q34.11
Ensembl
ENSG00000106976
Associated Conditions (10)
Developmental and epileptic encephalopathy
31A
DNM1-related disorder
Inborn genetic diseases
31B
West syndrome
Lennox-Gastaut syndrome
Seizure
1
6 conditions
Key Variants
RS1052613908
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy
Health Risk
RS1057524561
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 31A, DNM1-related disorder
Health Risk
RS1131692025
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy
Health Risk
RS1196657001
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy
Health Risk
RS1280163668
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy
Health Risk
RS138053929
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 31A, Inborn genetic diseases
Health Risk
RS138357499
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy
Health Risk
RS1432815882
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy
Health Risk
RS1437208936
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy
Health Risk
RS1456731322
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy
Health Risk
RS1486970211
Conflicting classifications of pathogenicity
Inborn genetic diseases, Developmental and epileptic encephalopathy, 31A
Health Risk
RS1554772974
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy
Health Risk
All Variants (96)
RSID Category Clinical Significance Conditions
RS1052613908 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy
RS1057524561 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A, DNM1-related disorder
RS1131692025 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy
RS1196657001 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy
RS1280163668 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy
RS138053929 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A, Inborn genetic diseases
RS138357499 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy
RS1432815882 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy
RS1437208936 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy
RS1456731322 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy
RS1486970211 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy, 31A
RS1554772974 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy
RS1554781552 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1554785772 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy
RS1564328617 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy, 31A
RS1564355393 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A, Inborn genetic diseases
RS1588449811 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy
RS1835087040 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy
RS1835102166 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy
RS1835857188 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy
RS1835858946 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy
RS187315526 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A, Inborn genetic diseases
RS199575353 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy
RS200535620 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A, Inborn genetic diseases
RS2131150312 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A, Inborn genetic diseases
RS2538984991 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy
RS374403477 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A, Inborn genetic diseases
RS527412689 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A, Inborn genetic diseases
RS546517702 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A, Inborn genetic diseases
RS745835138 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A, Inborn genetic diseases
RS750296552 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy
RS752005713 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy
RS752575279 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy
RS760118978 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy
RS763288862 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy
RS763794084 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy, 31A
RS763830358 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy
RS772264918 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy
RS781345149 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy, 31A
RS866946278 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy
RS968662562 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy
RS992608425 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy
RS1057518655 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy
RS1064794773 Health Risk Likely pathogenic
RS1064794828 Health Risk Likely pathogenic
RS1064794903 Health Risk Likely pathogenic
RS1064795360 Health Risk Likely pathogenic
RS1064795538 Health Risk Likely pathogenic
RS1131692028 Health Risk Likely pathogenic
RS1323426610 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy
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