View unique variants in gene HADHA

MSeqDR-LSDB: Mitochondrial Disease LSDB
Information The variants shown are described using the transcript reference sequence.

79 entries on 1 page. Showing entries 1 - 79.
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Effect     

Reported     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     

Chr     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

MSCV     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
./. 1 - - c.-201C>T p.(=) - - - - 2 Unknown - g.26467665G>A - - - HADHA_000031 MSCV_0018978 - - ; clinvar; - - - -
./. 1 - - c.-189G>A p.(=) - - - - 2 Unknown - g.26467653C>T - - - HADHA_000030 MSCV_0018977 - - ; clinvar; - - - -
./. 1 - - c.-168del p.(=) - - - - 2 Unknown - g.26467632del - - - HADHA_000029 MSCV_0018976 - - ; clinvar; - - - -
./. 1 - - c.-37T>C p.(=) - - - - 2 Unknown - g.26467501A>G - - - HADHA_000028 MSCV_0018975 - - ; clinvar; - - - -
./. 1 - - c.1A>G p.? - - - - 2 Unknown - g.26467464T>C - - - HADHA_000071 MSCV_0018974 - - ; clinvar; - - - -
./. 1 - - c.16G>C p.(Ala6Pro) - - - - 2 Unknown - g.26467449C>G - - - HADHA_000070 MSCV_0018973 - - ; clinvar; - - - -
./. 1 - - c.68-10T>G p.(=) - - - - 2 Unknown - g.26462021A>C - - - HADHA_000069 MSCV_0018972 - - ; clinvar; - - - -
./. 1 - - c.79C>T p.(Arg27Cys) - - - - 2 Unknown - g.26462000G>A - - - HADHA_000068 MSCV_0018971 - - ; clinvar; - - - -
./. 1 - - c.157C>T p.(Arg53*) - - - - 2 Unknown - g.26461825G>A - - - HADHA_000067 MSCV_0018970 - - ; clinvar; - - - -
./. 1 - - c.180+1G>A p.? - - - - 2 Unknown - g.26461801C>T - - - HADHA_000066 MSCV_0018969 - - ; clinvar; - - - -
./. 1 - - c.180+3A>G p.? - - - - 2 Unknown - g.26461799T>C - - - HADHA_000065 MSCV_0018968 - - ; clinvar; - - - -
./. 1 - - c.240G>A p.(Trp80*) - - - - 2 Unknown - g.26459797C>T - - - HADHA_000064 MSCV_0018967 - - ; clinvar; - - - -
./. 1 - - c.264C>T p.(=) - - - - 2 Unknown - g.26459773G>A - - - HADHA_000063 MSCV_0018966 - - ; clinvar; - - - -
./. 1 - - c.274_278del p.(Ser92Lysfs*10) - - - - 2 Unknown - g.26459759_26459763del - - - HADHA_000062 MSCV_0018965 - - ; clinvar; - - - -
./. 1 - - c.403A>G p.(Lys135Glu) - - - - 2 Unknown - g.26457135T>C - - - HADHA_000061 MSCV_0018964 - - ; clinvar; - - - -
./. 1 - - c.453+1G>A p.? - - - - 2 Unknown - g.26457084C>T - - - HADHA_000060 MSCV_0018963 - - ; clinvar; - - - -
./. 1 - - c.454-13C>T p.(=) - - - - 2 Unknown - g.26455160G>A - - - HADHA_000059 MSCV_0018962 - - ; clinvar; - - - -
./. 1 - - c.474C>T p.(=) - - - - 2 Unknown - g.26455127G>A - - - HADHA_000027 MSCV_0018961 - - ; clinvar; - - - -
./. 1 - - c.515del p.(Pro172Leufs*29) - - - - 2 Unknown - g.26455086del - - - HADHA_000026 MSCV_0018960 - - ; clinvar; - - - -
./. 1 - - c.560G>C p.(Arg187Thr) - - - - 2 Unknown - g.26455041C>G - - - HADHA_000025 MSCV_0018959 - - ; clinvar; - - - -
./. 1 - - c.573+8_573+9insT p.(=) - - - - 2 Unknown - g.26455019_26455020insA - - - HADHA_000024 MSCV_0018958 - - ; clinvar; - - - -
./. 1 - - c.585T>A p.(=) - - - - 2 Unknown - g.26453151A>T - - - HADHA_000023 MSCV_0018957 - - ; clinvar; - - - -
./. 1 - - c.589G>T p.(Ala197Ser) - - - - 2 Unknown - g.26453147C>A - - - HADHA_000022 MSCV_0018956 - - ; clinvar; - - - -
./. 1 - - c.676+2T>C p.? - - - - 2 Unknown - g.26453058A>G - - - HADHA_000021 MSCV_0018955 - - ; clinvar; - - - -
./. 1 - - c.676+6T>C p.(=) - - - - 2 Unknown - g.26453054A>G - - - HADHA_000020 MSCV_0018954 - - ; clinvar; - - - -
./. 1 - - c.703C>T p.(Arg235Trp) - - - - 2 Unknown - g.26438018G>A - - - HADHA_000019 MSCV_0018953 - - ; clinvar; - - - -
./. 1 - - c.809C>T p.(Ala270Val) - - - - 2 Unknown - g.26437421G>A - - - HADHA_000018 MSCV_0018952 - - ; clinvar; - - - -
./., ?/? 2 - 9/20 c.845T>A p.(Val282Asp) possibly_damaging(0.781) missense_variant - -, deleterious(0) 2 Unknown subst g.26437385A>T - 5.640 - HADHA_000007 MSCV_0000796 rs137852773 - clinvar; 9739053 - - -
./. 1 - - c.858G>A p.(=) - - - - 2 Unknown - g.26437372C>T - - - HADHA_000017 MSCV_0018950 - - ; clinvar; - - - -
./., ?/? 2 - 9/20 c.871C>T p.(Arg291*) - stop_gained - - 2 Unknown subst g.26437359G>A - 3.440 - HADHA_000006 MSCV_0000795 rs137852775 - clinvar; 9739053 - - -
./., ?/? 2 - 9/20 c.914T>A p.(Ile305Asn) probably_damaging(0.98) missense_variant - -, deleterious(0) 2 Unknown subst g.26437316A>T - 5.430 - HADHA_000005 MSCV_0000794 rs137852774 - clinvar; 2019931;9739053 - - -
./. 1 - - c.919-2A>G p.? - - - - 2 Unknown - g.26435497T>C - - - HADHA_000016 MSCV_0018947 - - ; clinvar; - - - -
./. 1 - - c.932G>C p.(Gly311Ala) - - - - 2 Unknown - g.26435482C>G - - - HADHA_000015 MSCV_0018946 - - ; clinvar; - - - -
+/+, ./. 2 - 11/20 c.1025T>C p.(Leu342Pro) probably_damaging(1) missense_variant - -, deleterious(0) 2 Unknown subst g.26432709A>G - 6.060 - HADHA_000004 MSCV_0000793 rs137852772 - ; clinvar, , clinVar; Ensembl; 9266371 - - -
./. 1 - - c.1052del p.(Lys351Argfs*21) - - - - 2 Unknown - g.26432682del - - - HADHA_000014 MSCV_0018944 - - ; clinvar; - - - -
./. 1 - - c.1072C>A p.(Gln358Lys) - - - - 2 Unknown - g.26432662G>T - - - HADHA_000013 MSCV_0018943 - - ; clinvar; - - - -
./. 1 - - c.1086-3_1092del p.? - - - - 2 Unknown - g.26427059_26427068del - - - HADHA_000012 MSCV_0018942 - - ; clinvar; - - - -
+/+, ./. 2 - 12/20 c.1132C>T p.(Gln378*) - stop_gained - - 2 Unknown subst g.26427019G>A - 5.000 - HADHA_000003 MSCV_0000792 rs137852770 - ; clinvar, , clinVar; Ensembl; 7846063 - - -
./. 1 - - c.1202del p.(Gln401Argfs*8) - - - - 2 Unknown - g.26426949del - - - HADHA_000011 MSCV_0018940 - - ; clinvar; - - - -
./. 1 - - c.1212G>C p.(=) - - - - 2 Unknown - g.26426939C>G - - - HADHA_000010 MSCV_0018939 - - ; clinvar; - - - -
./. 1 - - c.1221-1G>C p.? - - - - 2 Unknown - g.26424190C>G - - - HADHA_000009 MSCV_0018938 - - ; clinvar; - - - -
./. 1 - - c.1237A>T p.(Lys413*) - - - - 2 Unknown - g.26424173T>A - - - HADHA_000008 MSCV_0018937 - - ; clinvar; - - - -
./. 1 - - c.1344_1345del p.(Phe449*) - - - - 2 Unknown - g.26424065_26424066del - - - HADHA_000058 MSCV_0018936 - - ; clinvar; - - - -
./. 1 - - c.1392+10G>A p.(=) - - - - 2 Unknown - g.26424008C>T - - - HADHA_000057 MSCV_0018935 - - ; clinvar; - - - -
+/+, ./. 2 - 15/20 c.1528G>C p.(Glu510Gln) probably_damaging(0.997) missense_variant - -, deleterious(0) 2 Unknown subst g.26418053C>G - 5.290 - HADHA_000002 MSCV_0000791 rs137852769 - ; clinvar, , clinVar; Ensembl; 9003853;7811722;7846063;10518281;8770876 - - -
./. 1 - - c.1590del p.(Lys531Serfs*24) - - - - 2 Unknown - g.26417991del - - - HADHA_000079 MSCV_0018933 - - ; clinvar; - - - -
./. 1 - - c.1620+11G>C p.(=) - - - - 2 Unknown - g.26417950C>G - - - HADHA_000078 MSCV_0018932 - - ; clinvar; - - - -
./. 1 - - c.1655C>T p.(Ala552Val) - - - - 2 Unknown - g.26417473G>A - - - HADHA_000077 MSCV_0018931 - - ; clinvar; - - - -
+/+, ./. 2 - 16/20 c.1678C>T p.(Arg560*) - stop_gained - - 2 Unknown subst g.26417450G>A - 1.330 - HADHA_000001 MSCV_0000790 rs137852771 - ; clinvar, , clinVar; Ensembl; 8865274 - - -
./. 1 - - c.1690-14C>T p.(=) - - - - 2 Unknown - g.26416655G>A - - - HADHA_000076 MSCV_0018929 - - ; clinvar; - - - -
./. 1 - - c.1690-13G>A p.(=) - - - - 2 Unknown - g.26416654C>T - - - HADHA_000075 MSCV_0018928 - - ; clinvar; - - - -
./. 1 - - c.1690-6G>A p.(=) - - - - 2 Unknown - g.26416647C>T - - - HADHA_000074 MSCV_0018927 - - ; clinvar; - - - -
./. 1 - - c.1690-2A>G p.? - - - - 2 Unknown - g.26416643T>C - - - HADHA_000073 MSCV_0018926 - - ; clinvar; - - - -
./. 1 - - c.1793_1794del p.(His598Argfs*33) - - - - 2 Unknown - g.26416537_26416538del - - - HADHA_000072 MSCV_0018924 - - ; clinvar; - - - -
./. 1 - - c.1794T>C p.(=) - - - - 2 Unknown - g.26416537A>G - - - HADHA_000056 MSCV_0018925 - - ; clinvar; - - - -
./. 1 - - c.1811del p.(Gly604Alafs*16) - - - - 2 Unknown - g.26416520del - - - HADHA_000055 MSCV_0018923 - - ; clinvar; - - - -
./. 1 - - c.1829G>A p.(Arg610Gln) - - - - 2 Unknown - g.26416502C>T - - - HADHA_000054 MSCV_0018922 - - ; clinvar; - - - -
./. 1 - - c.1912A>G p.(Ile638Val) - - - - 2 Unknown - g.26415267T>C - - - HADHA_000053 MSCV_0018921 - - ; clinvar; - - - -
./. 1 - - c.1915_1918del p.(Tyr639Argfs*4) - - - - 2 Unknown - g.26415261_26415264del - - - HADHA_000052 MSCV_0018919 - - ; clinvar; - - - -
./. 1 - - c.1918C>T p.(Gln640*) - - - - 2 Unknown - g.26415261G>A - - - HADHA_000051 MSCV_0018920 - - ; clinvar; - - - -
./. 1 - - c.1967del p.(Leu656*) - - - - 2 Unknown - g.26415212del - - - HADHA_000050 MSCV_0018918 - - ; clinvar; - - - -
./. 1 - - c.1981C>T p.(=) - - - - 2 Unknown - g.26415198G>A - - - HADHA_000049 MSCV_0018917 - - ; clinvar; - - - -
./. 1 - - c.1981_1999del p.(Leu661Serfs*12) - - - - 2 Unknown - g.26415180_26415198del - - - HADHA_000048 MSCV_0018916 - - ; clinvar; - - - -
./. 1 - - c.2071G>T p.(Glu691*) - - - - 2 Unknown - g.26414427C>A - - - HADHA_000047 MSCV_0018915 - - ; clinvar; - - - -
./. 1 - - c.2113G>A p.(Val705Ile) - - - - 2 Unknown - g.26414385C>T - - - HADHA_000046 MSCV_0018914 - - ; clinvar; - - - -
./. 1 - - c.2146+1G>A p.? - - - - 2 Unknown - g.26414351C>T - - - HADHA_000045 MSCV_0018913 - - ; clinvar; - - - -
./. 1 - - c.2146+2T>C p.? - - - - 2 Unknown - g.26414350A>G - - - HADHA_000044 MSCV_0018912 - - ; clinvar; - - - -
./. 1 - - c.2147-8C>G p.(=) - - - - 2 Unknown - g.26414272G>C - - - HADHA_000043 MSCV_0018911 - - ; clinvar; - - - -
./. 1 - - c.2228_2229insAACA p.(Phe744Thrfs*10) - - - - 2 Unknown - g.26414182_26414183insTGTT - - - HADHA_000042 MSCV_0018910 - - ; clinvar; - - - -
./. 1 - - c.*202G>A p.(=) - - - - 2 Unknown - g.26413917C>T - - - HADHA_000041 MSCV_0018909 - - ; clinvar; - - - -
./. 1 - - c.*302G>A p.(=) - - - - 2 Unknown - g.26413817C>T - - - HADHA_000040 MSCV_0018908 - - ; clinvar; - - - -
./. 1 - - c.*355C>T p.(=) - - - - 2 Unknown - g.26413764G>A - - - HADHA_000039 MSCV_0018907 - - ; clinvar; - - - -
./. 1 - - c.*375_*376del p.(=) - - - - 2 Unknown - g.26413743_26413744del - - - HADHA_000038 MSCV_0018906 - - ; clinvar; - - - -
./. 1 - - c.*389C>G p.(=) - - - - 2 Unknown - g.26413730G>C - - - HADHA_000037 MSCV_0018905 - - ; clinvar; - - - -
./. 1 - - c.*405C>T p.(=) - - - - 2 Unknown - g.26413714G>A - - - HADHA_000036 MSCV_0018904 - - ; clinvar; - - - -
./. 1 - - c.*464_*465del p.(=) - - - - 2 Unknown - g.26413654_26413655del - - - HADHA_000035 MSCV_0018903 - - ; clinvar; - - - -
./. 1 - - c.*489G>A p.(=) - - - - 2 Unknown - g.26413630C>T - - - HADHA_000034 MSCV_0018902 - - ; clinvar; - - - -
./. 1 - - c.*494G>T p.(=) - - - - 2 Unknown - g.26413625C>A - - - HADHA_000033 MSCV_0018901 - - ; clinvar; - - - -
./. 1 - - c.*510A>T p.(=) - - - - 2 Unknown - g.26413609T>A - - - HADHA_000032 MSCV_0018900 - - ; clinvar; - - - -
Legend  

Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium