View all transcript variants in gene SUCLG1

MSeqDR-LSDB: Mitochondrial Disease LSDB
Information The variants shown are described using the NM_003849.3 transcript reference sequence.

40 entries on 1 page. Showing entries 1 - 40.
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Effect     

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     

Variant_disease     

Owner     
./. - - c.-186G>A p.(=) - - - - 2 Unknown - g.84686579C>T - - - SUCLG1_000019 MSCV_0019292 - - ; clinvar; - - - - -
./. - - c.-150T>A p.(=) - - - - 2 Unknown - g.84686543A>T - - - SUCLG1_000018 MSCV_0019291 - - ; clinvar; - - - - -
./. - - c.-133C>T p.(=) - - - - 2 Unknown - g.84686526G>A - - - SUCLG1_000017 MSCV_0019290 - - ; clinvar; - - - - -
./. - - c.-107A>G p.(=) - - - - 2 Unknown - g.84686500T>C - - - SUCLG1_000016 MSCV_0019289 - - ; clinvar; - - - - -
./. - - c.-71G>T p.(=) - - - - 2 Unknown - g.84686464C>A - - - SUCLG1_000015 MSCV_0019288 - - ; clinvar; - - - - -
./. - - c.-39C>A p.(=) - - - - 2 Unknown - g.84686432G>T - - - SUCLG1_000014 MSCV_0019287 - - ; clinvar; - - - - -
./. - - c.-39C>G p.(=) - - - - 2 Unknown - g.84686432G>C - - - SUCLG1_000004 MSCV_0019286 - - ; clinvar; - - - - -
./. - - c.11C>T p.(Thr4Ile) - - - - 2 Unknown - g.84686383G>A - - - SUCLG1_000013 MSCV_0019285 - - ; clinvar; - - - - -
./. - - c.97+3G>C p.? - - - - 2 Unknown - g.84686294C>G - - - SUCLG1_000012 MSCV_0019284 - - ; clinvar; - - - - -
./. - - c.98-15_98-14insAACC p.(=) - - - - 2 Unknown - g.84676890_84676891insGGTT - - - SUCLG1_000011 MSCV_0019283 - - ; clinvar; - - - - -
./. - - c.98-13_98-11del p.(=) - - - - 2 Unknown - g.84676887_84676889del - - - SUCLG1_000010 MSCV_0019282 - - ; clinvar; - - - - -
./. - - c.98-10_98-8del p.(=) - - - - 2 Unknown - g.84676884_84676886del - - - SUCLG1_000009 MSCV_0019281 - - ; clinvar; - - - - -
./. - - c.101C>T p.(Pro34Leu) - - - - 2 Unknown - g.84676873G>A - - - SUCLG1_000008 MSCV_0019280 - - ; clinvar; - - - - -
./. - - c.110G>C p.(Gly37Ala) - - - - 2 Unknown - g.84676864C>G - - - SUCLG1_000025 MSCV_0019279 - - ; clinvar; - - - - -
./. - - c.201+8T>A p.(=) - - - - 2 Unknown - g.84676765A>T - - - SUCLG1_000024 MSCV_0019278 - - ; clinvar; - - - - -
./. - - c.201+9A>G p.(=) - - - - 2 Unknown - g.84676764T>C - - - SUCLG1_000023 MSCV_0019277 - - ; clinvar; - - - - -
./. - - c.202-4T>C p.? - - - - 2 Unknown - g.84670528A>G - - - SUCLG1_000022 MSCV_0019276 - - ; clinvar; - - - - -
./. - - c.236G>A p.(Gly79Asp) - - - - 2 Unknown - g.84670490C>T - - - SUCLG1_000021 MSCV_0019275 - - ; clinvar; - - - - -
./. - - c.242A>G p.(Lys81Arg) - - - - 2 Unknown - g.84670484T>C - - - SUCLG1_000020 MSCV_0019274 - - ; clinvar; - - - - -
+/+ - 3/9 c.254G>C p.(Gly85Ala) probably_damaging(1) missense_variant - deleterious(0) 2 Unknown subst g.84670472C>G - 5.900 - SUCLG1_000003 MSCV_0000840 rs267607097 - ; clinVar; Ensembl; 19526370 - - - -
./. - - c.254G>C p.(Gly85Ala) - - - - 2 Unknown - g.84670472C>G - - - SUCLG1_000003 MSCV_0000840 - - ; clinvar; - - - - -
./. - - c.341C>T p.(Thr114Met) - - - - 2 Unknown - g.84668561G>A - - - SUCLG1_000033 MSCV_0019272 - - ; clinvar; - - - - -
./. - - c.345T>C p.(=) - - - - 2 Unknown - g.84668557A>G - - - SUCLG1_000032 MSCV_0019271 - - ; clinvar; - - - - -
./. - - c.352A>G p.(Ile118Val) - - - - 2 Unknown - g.84668550T>C - - - SUCLG1_000031 MSCV_0019270 - - ; clinvar; - - - - -
./. - - c.395C>G p.(Ala132Gly) - - - - 2 Unknown - g.84668507G>C - - - SUCLG1_000030 MSCV_0019269 - - ; clinvar; - - - - -
./. - - c.448C>T p.(Gln150*) - - - - 2 Unknown - g.84668454G>A - - - SUCLG1_000002 MSCV_0000839 - - ; clinvar; - - - - -
+/+ - 4/9 c.448C>T p.(Gln150*) - stop_gained - - 2 Unknown subst g.84668454G>A - 5.590 - SUCLG1_000002 MSCV_0000839 rs267607098 - ; clinVar; Ensembl; 20693550 - - - -
./. - - c.507del p.(Asn171Thrfs*35) - - - - 2 Unknown - g.84668395del - - - SUCLG1_000029 MSCV_0019267 - - ; clinvar; - - - - -
./. - - c.509C>G p.(Pro170Arg) - - - - 2 Unknown - g.84668393G>C - - - SUCLG1_000001 MSCV_0000838 - - ; clinvar; - - - - -
+/+ - 4/9 c.509C>G p.(Pro170Arg) probably_damaging(1) missense_variant - deleterious(0) 2 Unknown subst g.84668393G>C - 5.590 - SUCLG1_000001 MSCV_0000838 rs267607099 - ; clinVar; Ensembl; 20693550 - - - -
./. - - c.590-6G>A p.(=) - - - - 2 Unknown - g.84660565C>T - - - SUCLG1_000028 MSCV_0019265 - - ; clinvar; - - - - -
./. - - c.900C>T p.(=) - - - - 2 Unknown - g.84652653G>A - - - SUCLG1_000027 MSCV_0019264 - - ; clinvar; - - - - -
./. - - c.959G>A p.(Ser320Asn) - - - - 2 Unknown - g.84652594C>T - - - SUCLG1_000026 MSCV_0019263 - - ; clinvar; - - - - -
./. - - c.1028G>C p.(Arg343Thr) - - - - 2 Unknown - g.84650883C>G - - - SUCLG1_000005 MSCV_0019262 - - ; clinvar; - - - - -
./. - - c.*13del p.(=) - - - - 2 Unknown - g.84650857del - - - SUCLG1_000035 MSCV_0019261 - - ; clinvar; - - - - -
./. - - c.*38C>T p.(=) - - - - 2 Unknown - g.84650832G>A - - - SUCLG1_000034 MSCV_0019260 - - ; clinvar; - - - - -
./. - - c.*55G>C p.(=) - - - - 2 Unknown - g.84650815C>G - - - SUCLG1_000007 MSCV_0019259 - - ; clinvar; - - - - -
./. - - c.*163T>C p.(=) - - - - 2 Unknown - g.84650707A>G - - - SUCLG1_000037 MSCV_0019258 - - ; clinvar; - - - - -
./. - - c.*207A>G p.(=) - - - - 2 Unknown - g.84650663T>C - - - SUCLG1_000036 MSCV_0019257 - - ; clinvar; - - - - -
./. - - c.*218A>G p.(=) - - - - 2 Unknown - g.84650652T>C - - - SUCLG1_000038 MSCV_0019256 - - ; clinvar; - - - - -
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium