View unique variants in gene SUCLA2

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

46 entries on 1 page. Showing entries 1 - 46.
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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     

Variant_disease     

Owner     
./. 1 - - c.-84-4296C>G - - - - - 13 Unknown - g.48575454G>C - - - SUCLA2_000033 MSCV_0017317 - - ; clinvar; - - - - -
./. 1 - - c.-84-4295G>A - - - - - 13 Unknown - g.48575453C>T - - - SUCLA2_000032 MSCV_0017316 - - ; clinvar; - - - - -
./. 1 - - c.-84-4281G>T - - - - - 13 Unknown - g.48575439C>A - - - SUCLA2_000031 MSCV_0017315 - - ; clinvar; - - - - -
./. 1 - - c.-84-4259T>G - - - - - 13 Unknown - g.48575417A>C - - - SUCLA2_000030 MSCV_0017314 - - ; clinvar; - - - - -
./. 1 - - c.-84-4227C>T - - - - - 13 Unknown - g.48575385G>A - - - SUCLA2_000029 MSCV_0017313 - - ; clinvar; - - - - -
./. 1 - - c.-84-4180C>G - - - - - 13 Unknown - g.48575338G>C - - - SUCLA2_000028 MSCV_0017312 - - ; clinvar; - - - - -
./. 1 - - c.-84-4170G>A - - - - - 13 Unknown - g.48575328C>T - - - SUCLA2_000027 MSCV_0017311 - - ; clinvar; - - - - -
./. 1 - - c.-65T>G - - - - - 13 Unknown - g.48571139A>C - - - SUCLA2_000026 MSCV_0017310 - - ; clinvar; - - - - -
./. 1 - - c.62C>T - - - - - 13 Unknown - g.48571013G>A - - - SUCLA2_000041 MSCV_0017309 - - ; clinvar; - - - - -
./. 1 - - c.82A>G - - - - - 13 Unknown - g.48570993T>C - - - SUCLA2_000040 MSCV_0017308 - - ; clinvar; - - - - -
./. 1 - - c.98-13G>C - - - - - 13 Unknown - g.48563129C>G - - - SUCLA2_000039 MSCV_0017307 - - ; clinvar; - - - - -
./. 1 - - c.98-2A>G - - - - - 13 Unknown - g.48563118T>C - - - SUCLA2_000038 MSCV_0017306 - - ; clinvar; - - - - -
./. 1 - - c.100T>G - - - - - 13 Unknown - g.48563114A>C - - - SUCLA2_000025 MSCV_0017305 - - ; clinvar; - - - - -
+/+, ./. 2 - 3/11 c.178G>A - probably_damaging(1) missense_variant - -, deleterious(0) 13 Unknown subst g.48563036C>T - 5.160 - SUCLA2_000002 MSCV_0000530 rs121908537 - ; clinvar, , clinVar; Ensembl; 17301081 - - - -
./. 1 - - c.197+9C>T - - - - - 13 Unknown - g.48563008G>A - - - SUCLA2_000024 MSCV_0017303 - - ; clinvar; - - - - -
./. 1 - - c.199C>T - - - - - 13 Unknown - g.48562837G>A - - - SUCLA2_000023 MSCV_0017302 - - ; clinvar; - - - - -
./. 1 - - c.336A>G - - - - - 13 Unknown - g.48562700T>C - - - SUCLA2_000022 MSCV_0017301 - - ; clinvar; - - - - -
./. 1 - - c.343A>G - - - - - 13 Unknown - g.48562693T>C - - - SUCLA2_000021 MSCV_0017300 - - ; clinvar; - - - - -
+/+, ./. 2 - - c.360+1G>A - - splice_donor_variant - - 13 Unknown subst g.48562675C>T - 5.400 - SUCLA2_000001 MSCV_0000529 rs113994161 - ; clinvar, , clinVar; Ensembl; 17287286;20301762;17301081 - - - -
./. 1 - - c.421T>A - - - - - 13 Unknown - g.48547467A>T - - - SUCLA2_000020 MSCV_0017298 - - ; clinvar; - - - - -
./. 1 - - c.443A>G - - - - - 13 Unknown - g.48547445T>C - - - SUCLA2_000046 - - - ; clinvar; - - - - Lishuang Shen
+/+, ./. 2 - 6/11 c.577G>A - possibly_damaging(0.875) missense_variant - -, deleterious(0) 13 Unknown subst g.48542781C>T - 5.980 - SUCLA2_000003 MSCV_0000528 rs397515462 - ; clinvar, , clinvar; ensembl; 23759946 - - - -
./. 1 - - c.615T>C - - - - - 13 Unknown - g.48542743A>G - - - SUCLA2_000019 MSCV_0017296 - - ; clinvar; - - - - -
./. 1 - - c.628+4A>G - - - - - 13 Unknown - g.48542726T>C - - - SUCLA2_000018 MSCV_0017295 - - ; clinvar; - - - - -
./. 1 - - c.637A>G - - - - - 13 Unknown - g.48528684T>C - - - SUCLA2_000017 MSCV_0017294 - - ; clinvar; - - - - -
./. 1 - - c.641A>T - - - - - 13 Unknown - g.48528680T>A - - - SUCLA2_000016 MSCV_0017293 - - ; clinvar; - - - - -
./. 1 - - c.643G>A - - - - - 13 Unknown - g.48528678C>T - - - SUCLA2_000015 MSCV_0017292 - - ; clinvar; - - - - -
+/+, ./. 2 - 7/11 c.676C>T - benign(0.136) missense_variant - -, deleterious(0) 13 Unknown subst g.48528645G>A - 5.670 - SUCLA2_000004 MSCV_0000527 rs121908538 - ; clinvar, , clinVar; Ensembl; 17301081 - - - -
./. 1 - - c.746C>T - - - - - 13 Unknown - g.48528575G>A - - - SUCLA2_000045 - - - ; clinvar; - - - - Lishuang Shen
./. 1 - - c.900A>C - - - - - 13 Unknown - g.48528308T>G - - - SUCLA2_000014 MSCV_0017290 - - ; clinvar; - - - - -
./. 1 - - c.925G>A - - - - - 13 Unknown - g.48528283C>T - - - SUCLA2_000013 MSCV_0017289 - - ; clinvar; - - - - -
./. 1 - - c.1176G>A - - - - - 13 Unknown - g.48517548C>T - - - SUCLA2_000012 MSCV_0017288 - - ; clinvar; - - - - -
./. 1 - - c.*35T>G - - - - - 13 Unknown - g.48517471A>C - - - SUCLA2_000011 MSCV_0017287 - - ; clinvar; - - - - -
./. 1 - - c.*195A>G - - - - - 13 Unknown - g.48517311T>C - - - SUCLA2_000010 MSCV_0017286 - - ; clinvar; - - - - -
./. 1 - - c.*205T>C - - - - - 13 Unknown - g.48517301A>G - - - SUCLA2_000009 MSCV_0017285 - - ; clinvar; - - - - -
./. 1 - - c.*217T>C - - - - - 13 Unknown - g.48517289A>G - - - SUCLA2_000008 MSCV_0017284 - - ; clinvar; - - - - -
./. 1 - - c.*220C>T - - - - - 13 Unknown - g.48517286G>A - - - SUCLA2_000007 MSCV_0017283 - - ; clinvar; - - - - -
./. 1 - - c.*297_*299del - - - - - 13 Unknown - g.48517207_48517209del - - - SUCLA2_000006 MSCV_0017282 - - ; clinvar; - - - - -
./. 1 - - c.*328A>G - - - - - 13 Unknown - g.48517178T>C - - - SUCLA2_000005 MSCV_0017281 - - ; clinvar; - - - - -
./. 1 - - c.*331C>A - - - - - 13 Unknown - g.48517175G>T - - - SUCLA2_000037 MSCV_0017280 - - ; clinvar; - - - - -
./. 1 - - c.*349C>G - - - - - 13 Unknown - g.48517157G>C - - - SUCLA2_000036 MSCV_0017279 - - ; clinvar; - - - - -
./. 1 - - c.*431G>C - - - - - 13 Unknown - g.48517075C>G - - - SUCLA2_000035 MSCV_0017278 - - ; clinvar; - - - - -
./. 1 - - c.*468A>G - - - - - 13 Unknown - g.48517038T>C - - - SUCLA2_000034 MSCV_0017277 - - ; clinvar; - - - - -
./. 1 - - c.*661C>A - - - - - 13 Unknown - g.48516845G>T - - - SUCLA2_000044 MSCV_0017276 - - ; clinvar; - - - - -
./. 1 - - c.*661C>G - - - - - 13 Unknown - g.48516845G>C - - - SUCLA2_000043 MSCV_0017275 - - ; clinvar; - - - - -
./. 1 - - c.*714_*715insG - - - - - 13 Unknown - g.48516791_48516792insC - - - SUCLA2_000042 MSCV_0017274 - - ; clinvar; - - - - -
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium