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ACADM

From SNPedia

is agene
is mentioned by
Full nameacyl-CoA dehydrogenase, C-4 to C-12 straight chain
EntrezGene34
PheGenI34
VariationViewer34
ClinVarACADM
dbSNP34
SADR34
HugeNav34
wikipediaACADM
googleACADM
gopubmedACADM
EVSACADM
HEFalMpACADM
MyGene2ACADM
23andMeACADM
UniProtP11310
EnsemblENSG00000117054
OMIM607008
# SNPs58
 Max MagnitudeChromosome positionSummary
I500311676,215,237
I500311776,215,129
I5012758
I5012759
rs1116151075,744,604
rs1116152175,750,645
rs121434274075,749,509
rs121434275075,761,300
rs121434276075,749,440
rs121434277075,734,850
rs121434278075,740,094
rs121434279075,740,088
rs121434280575,732,724
rs121434281575,749,444
rs121434282575,749,552
rs121434283075,733,603
rs125107875,723,803
rs147559466075,732,652
rs148207467075,761,221
rs149678400075,745,889
rs200724875075,745,823
rs201375579075,749,507
rs37052360975,745,788
rs373715782575,745,822
rs387906297075,761,278
rs398123072075,732,682
rs398123073075,732,743
rs398123074075,732,869
rs74726847175,750,529
rs747593459075,750,527
rs74761015675,761,160
rs75182941375,745,815
rs75664275575,749,559
rs761317029075,750,449
rs76211456075,732,886
rs76252458375,732,879
rs76614098675,761,228
rs76888400375,749,467
rs770273135075,745,904
rs77037805275,761,364
rs777998984075,734,829
rs77890655275,734,846
rs77931234575,761,161
rs77975934775,750,482
rs786204424075,733,629
rs78620452275,761,187
rs786204566075,732,880
rs786204631075,761,153
rs786204642075,734,852
rs794727694075,733,527
... further results

ACADM (acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain) is a gene on chromosome 1 that provides instructions for making an enzyme called acyl-coenzyme A dehydrogenase that is important for breaking down (degrading) a certain group of fats called medium-chain fatty acids.Wikipedia

Recessively inherited mutations in the ACADM gene may lead to Medium-chain acyl-coenzyme A dehydrogenase deficiency, also called MCAD deficiency or MCADD.

Mutations considered pathogenic for MCADD include:

rsid 23andMe term synonyms (c. or p.) OMIM On chip?
rs875989865 -6_6delGCCAACATGGCAinsACCCCGAAGG
rs875989875 107_113dupGATTTAG (p.Ser38Argfs)
rs147559466 i6006790 127G>A (p.Glu43Lys) Ancestry v2
rs398123072 i6006808 157C>T (p.Arg53Cys) Ancestry v2
rs121434280 i5012758, rs121434280 199T>C (p.Tyr67His) 607008.0011 Ancestry v2
rs398123073 216+2T>G Ancestry v2
rs398123074 i6006783 233T>C (p.Ile78Thr) Ancestry v2
rs762524583 244dupT (p.Trp82Leufs)
rs762114560 i5012755 250C>T (p.Leu84Phe)
rs794727694 287-1G>C
rs796051898 289G>C (p.Gly97Arg)
rs796051899 317G>A (p.Cys106Tyr)
rs875989873 322_325delATTA (p.Ile108Valfs)
rs796051900 329A>G (p.Glu110Gly)
rs864621963 343_348delGGATGT 607008.0008
rs875989859 i6006811 347G>A (p.Cys116Tyr)
rs121434283 i6006771 362C>T (p.Thr121Ile) 607008.0014 Ancestry v2
rs786204424 387+1delG
rs875989854 i6006789 395C>G (p.Pro132Arg)
rs777998984 426delG (p.Lys143Argfs)
rs875989857 430_432delAAG (p.Lys144del)
rs778906552 443G>A (p.Arg148Lys)
rs121434277 447G>T (p.Met149Ile) Ancestry v2
rs121434277 447G>A Ancestry v2
rs786204642 449_452delCTGA (p.Thr150Argfs)
rs875989876 i6006779 464T>C (p.Met155Thr)
rs794727833 469-1G>A
rs121434279 i5003118 577A>G 607008.0001 Ancestry v2
rs121434278 583G>A (p.Gly195Arg) 607008.0009 Ancestry v2
rs866388216 599+1G>A
rs875989861 599+5G>A
rs370523609 600-18G>A
rs751829413 i6006816 609A>C (p.Leu203Phe)
rs373715782 i5012760 616C>T (p.Arg206Cys) Ancestry v2
rs200724875 i5012761 617G>A Ancestry v2
rs149678400 i6006770 683C>A (p.Thr228Asn)
rs770273135 698T>C (p.Ile233Thr)
rs121434276 i5003121, i6006782 730T>C 607008.0005 Ancestry v2
rs121434281 i5003117, rs121434281 734C>T 607008.0012 Ancestry v2
rs875989867 742A>G (p.Arg248Gly)
rs768884003 757G>A (p.Glu253Lys)
rs201375579 797A>G (p.Asp266Gly)
rs121434274 799G>A (p.Gly267Arg) 607008.0003 Ancestry v2
rs875989872 817_829delGCAATGGGAGCTT (p.Ala273Leufs)
rs121434282 i5003116 842G>C 607008.0013 Ancestry v2
rs756642755 849+1G>A
rs761317029 850-2A>G Ancestry v2
rs779759347 i6006773 881G>C (p.Arg294Thr)
rs796051901 882_883delAG (p.Arg294Serfs)
rs875989864 926dupT (p.Gly310Argfs)
rs747593459 926T>G (p.Phe309Cys)
rs747268471 i6006791 928G>A (p.Gly310Arg)
rs786204631 977T>C (p.Met326Thr)
rs747610156 984delG (p.Met328Ilefs)
rs77931234 985A>C (p.Lys329Gln) Ancestry v2
rs77931234 i5012759, rs77931234 985A>G Ancestry v2
rs786204522 999_1011dupTAGAATGAGTTAC 607008.0002
rs875989874 1012_1013insTAGAATGAGTTAC (p.Gln338Leufs)
rs796051896 1012C>T (p.Gln338Ter)
rs148207467 i6006807 1045C>T (p.Arg349Ter) Ancestry v2
rs766140986 1052C>T (p.Thr351Ile)
rs387906297 1102_1105delTTAG (p.Ala369Leufs) 607008.0007 Ancestry v2
rs121434275 i5003122 1124T>C 607008.0004 Ancestry v2
rs770378052 1189dupT (p.Tyr397Leufs)
rs875989860 1221_1222delAA (p.Arg408Thrfs)