View all transcript variants in gene FASTKD2

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

82 entries on 1 page. Showing entries 1 - 82.
Legend  

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     

Owner     
./. - - c.-286T>C p.(=) - - - - 2 Unknown - g.207630251T>C - - - FASTKD2_000081 MSCV_0019384 - - ; clinvar; - - - -
./. - - c.-235G>C p.(=) - - - - 2 Unknown - g.207630302G>C - - - FASTKD2_000078 MSCV_0019385 - - ; clinvar; - - - -
./. - - c.-231T>G p.(=) - - - - 2 Unknown - g.207630306T>G - - - FASTKD2_000079 MSCV_0019386 - - ; clinvar; - - - -
./. - - c.-199C>T p.(=) - - - - 2 Unknown - g.207630338C>T - - - FASTKD2_000080 MSCV_0019387 - - ; clinvar; - - - -
./. - - c.-196G>A p.(=) - - - - 2 Unknown - g.207630341G>A - - - FASTKD2_000064 MSCV_0019388 - - ; clinvar; - - - -
./. - - c.-177C>T p.(=) - - - - 2 Unknown - g.207630360C>T - - - FASTKD2_000065 MSCV_0019389 - - ; clinvar; - - - -
./. - - c.-145G>A p.(=) - - - - 2 Unknown - g.207630392G>A - - - FASTKD2_000066 MSCV_0019390 - - ; clinvar; - - - -
./. - - c.-37C>T p.(=) - - - - 2 Unknown - g.207631381C>T - - - FASTKD2_000067 MSCV_0019391 - - ; clinvar; - - - -
./. - - c.-30T>C p.(=) - - - - 2 Unknown - g.207631388T>C - - - FASTKD2_000068 MSCV_0019392 - - ; clinvar; - - - -
./. - - c.-15A>G p.(=) - - - - 2 Unknown - g.207631403A>G - - - FASTKD2_000069 MSCV_0019393 - - ; clinvar; - - - -
./. - - c.44G>A p.(Ser15Asn) - - - - 2 Unknown - g.207631461G>A - - - FASTKD2_000070 MSCV_0019394 - - ; clinvar; - - - -
./. - - c.225A>G p.(=) - - - - 2 Unknown - g.207631642A>G - - - FASTKD2_000071 MSCV_0019395 - - ; clinvar; - - - -
./. - - c.527C>T p.(Ala176Val) - - - - 2 Unknown - g.207631944C>T - - - FASTKD2_000072 MSCV_0019396 - - ; clinvar; - - - -
./. - - c.602G>A p.(Arg201His) - - - - 2 Unknown - g.207632019G>A - - - FASTKD2_000073 MSCV_0019397 - - ; clinvar; - - - -
./. - - c.832G>A p.(Glu278Lys) - - - - 2 Unknown - g.207634869G>A - - - FASTKD2_000074 MSCV_0019398 - - ; clinvar; - - - -
./. - - c.991-13G>C p.(=) - - - - 2 Unknown - g.207636605G>C - - - FASTKD2_000075 MSCV_0019399 - - ; clinvar; - - - -
+/+ - 7/12 c.1294C>T p.(Arg432*) - stop_gained - - 2 Unknown subst g.207638988C>T - 4.790 - FASTKD2_000001 MSCV_0000855 rs118203917 - ; clinVar; Ensembl; 18771761 - - -
./. - - c.1294C>T p.(Arg432*) - - - - 2 Unknown - g.207638988C>T - - - FASTKD2_000001 MSCV_0000855 - - ; clinvar; - - - -
./. - - c.1295G>A p.(Arg432Gln) - - - - 2 Unknown - g.207638989G>A - - - FASTKD2_000076 MSCV_0019401 - - ; clinvar; - - - -
./. - - c.1428-13C>G p.(=) - - - - 2 Unknown - g.207651444C>G - - - FASTKD2_000077 MSCV_0019402 - - ; clinvar; - - - -
./. - - c.1778C>T p.(Ser593Leu) - - - - 2 Unknown - g.207652844C>T - - - FASTKD2_000062 MSCV_0019403 - - ; clinvar; - - - -
./. - - c.1992A>C p.(=) - - - - 2 Unknown - g.207655389A>C - - - FASTKD2_000063 MSCV_0019404 - - ; clinvar; - - - -
./. - - c.2018A>G p.(Asn673Ser) - - - - 2 Unknown - g.207656411A>G - - - FASTKD2_000052 MSCV_0019405 - - ; clinvar; - - - -
./. - - c.2074A>G p.(Lys692Glu) - - - - 2 Unknown - g.207656467A>G - - - FASTKD2_000053 MSCV_0019406 - - ; clinvar; - - - -
./. - - c.2093C>T p.(Ala698Val) - - - - 2 Unknown - g.207656486C>T - - - FASTKD2_000054 MSCV_0019407 - - ; clinvar; - - - -
./. - - c.*58G>A p.(=) - - - - 2 Unknown - g.207656584G>A - - - FASTKD2_000012 MSCV_0019408 - - ; clinvar; - - - -
./. - - c.*87A>G p.(=) - - - - 2 Unknown - g.207656613A>G - - - FASTKD2_000013 MSCV_0019409 - - ; clinvar; - - - -
./. - - c.*159C>A p.(=) - - - - 2 Unknown - g.207656685C>A - - - FASTKD2_000014 MSCV_0019410 - - ; clinvar; - - - -
./. - - c.*399T>A p.(=) - - - - 2 Unknown - g.207656925T>A - - - FASTKD2_000015 MSCV_0019411 - - ; clinvar; - - - -
./. - - c.*451C>T p.(=) - - - - 2 Unknown - g.207656977C>T - - - FASTKD2_000016 MSCV_0019412 - - ; clinvar; - - - -
./. - - c.*557A>G p.(=) - - - - 2 Unknown - g.207657083A>G - - - FASTKD2_000017 MSCV_0019413 - - ; clinvar; - - - -
./. - - c.*585G>C p.(=) - - - - 2 Unknown - g.207657111G>C - - - FASTKD2_000018 MSCV_0019414 - - ; clinvar; - - - -
./. - - c.*624C>G p.(=) - - - - 2 Unknown - g.207657150C>G - - - FASTKD2_000019 MSCV_0019415 - - ; clinvar; - - - -
./. - - c.*627T>C p.(=) - - - - 2 Unknown - g.207657153T>C - - - FASTKD2_000020 MSCV_0019416 - - ; clinvar; - - - -
./. - - c.*672T>A p.(=) - - - - 2 Unknown - g.207657198T>A - - - FASTKD2_000021 MSCV_0019417 - - ; clinvar; - - - -
./. - - c.*1010T>C p.(=) - - - - 2 Unknown - g.207657536T>C - - - FASTKD2_000022 MSCV_0019418 - - ; clinvar; - - - -
./. - - c.*1036C>T p.(=) - - - - 2 Unknown - g.207657562C>T - - - FASTKD2_000023 MSCV_0019419 - - ; clinvar; - - - -
./. - - c.*1159G>A p.(=) - - - - 2 Unknown - g.207657685G>A - - - FASTKD2_000024 MSCV_0019420 - - ; clinvar; - - - -
./. - - c.*1180G>C p.(=) - - - - 2 Unknown - g.207657706G>C - - - FASTKD2_000025 MSCV_0019421 - - ; clinvar; - - - -
./. - - c.*1202A>T p.(=) - - - - 2 Unknown - g.207657728A>T - - - FASTKD2_000026 MSCV_0019422 - - ; clinvar; - - - -
./. - - c.*1215G>A p.(=) - - - - 2 Unknown - g.207657741G>A - - - FASTKD2_000011 MSCV_0019423 - - ; clinvar; - - - -
./. - - c.*1264_*1265insA p.(=) - - - - 2 Unknown - g.207657790_207657791insA - - - FASTKD2_000027 MSCV_0019424 - - ; clinvar; - - - -
./. - - c.*1335G>T p.(=) - - - - 2 Unknown - g.207657861G>T - - - FASTKD2_000028 MSCV_0019425 - - ; clinvar; - - - -
./. - - c.*1345G>A p.(=) - - - - 2 Unknown - g.207657871G>A - - - FASTKD2_000029 MSCV_0019426 - - ; clinvar; - - - -
./. - - c.*1419_*1430del p.(=) - - - - 2 Unknown - g.207657945_207657956del - - - FASTKD2_000006 MSCV_0019427 - - ; clinvar; - - - -
./. - - c.*1446A>C p.(=) - - - - 2 Unknown - g.207657972A>C - - - FASTKD2_000030 MSCV_0019428 - - ; clinvar; - - - -
./. - - c.*1452C>A p.(=) - - - - 2 Unknown - g.207657978C>A - - - FASTKD2_000031 MSCV_0019429 - - ; clinvar; - - - -
./. - - c.*1474_*1475insC p.(=) - - - - 2 Unknown - g.207658000_207658001insC - - - FASTKD2_000032 MSCV_0019430 - - ; clinvar; - - - -
./. - - c.*1518_*1519insG p.(=) - - - - 2 Unknown - g.207658044_207658045insG - - - FASTKD2_000033 MSCV_0019431 - - ; clinvar; - - - -
./. - - c.*1621A>G p.(=) - - - - 2 Unknown - g.207658147A>G - - - FASTKD2_000034 MSCV_0019432 - - ; clinvar; - - - -
./. - - c.*1981C>G p.(=) - - - - 2 Unknown - g.207658507C>G - - - FASTKD2_000007 MSCV_0019433 - - ; clinvar; - - - -
./. - - c.*2006_*2007del p.(=) - - - - 2 Unknown - g.207658532_207658533del - - - FASTKD2_000008 MSCV_0019434 - - ; clinvar; - - - -
./. - - c.*2069T>A p.(=) - - - - 2 Unknown - g.207658595T>A - - - FASTKD2_000055 MSCV_0019435 - - ; clinvar; - - - -
./. - - c.*2107del p.(=) - - - - 2 Unknown - g.207658633del - - - FASTKD2_000009 MSCV_0019436 - - ; clinvar; - - - -
./. - - c.*2298C>T p.(=) - - - - 2 Unknown - g.207658824C>T - - - FASTKD2_000010 MSCV_0019437 - - ; clinvar; - - - -
./. - - c.*2316G>A p.(=) - - - - 2 Unknown - g.207658842G>A - - - FASTKD2_000056 MSCV_0019438 - - ; clinvar; - - - -
./. - - c.*2321_*2322insAC p.(=) - - - - 2 Unknown - g.207658847_207658848insAC - - - FASTKD2_000002 MSCV_0019439 - - ; clinvar; - - - -
./. - - c.*2331C>T p.(=) - - - - 2 Unknown - g.207658857C>T - - - FASTKD2_000057 MSCV_0019440 - - ; clinvar; - - - -
./. - - c.*2428G>A p.(=) - - - - 2 Unknown - g.207658954G>A - - - FASTKD2_000058 MSCV_0019441 - - ; clinvar; - - - -
./. - - c.*2431C>G p.(=) - - - - 2 Unknown - g.207658957C>G - - - FASTKD2_000059 MSCV_0019442 - - ; clinvar; - - - -
./. - - c.*2488T>C p.(=) - - - - 2 Unknown - g.207659014T>C - - - FASTKD2_000060 MSCV_0019443 - - ; clinvar; - - - -
./. - - c.*2630G>A p.(=) - - - - 2 Unknown - g.207659156G>A - - - FASTKD2_000061 MSCV_0019444 - - ; clinvar; - - - -
./. - - c.*2876A>G p.(=) - - - - 2 Unknown - g.207659402A>G - - - FASTKD2_000049 MSCV_0019445 - - ; clinvar; - - - -
./. - - c.*2960T>C p.(=) - - - - 2 Unknown - g.207659486T>C - - - FASTKD2_000003 MSCV_0019446 - - ; clinvar; - - - -
./. - - c.*3005A>G p.(=) - - - - 2 Unknown - g.207659531A>G - - - FASTKD2_000050 MSCV_0019447 - - ; clinvar; - - - -
./. - - c.*3080C>A p.(=) - - - - 2 Unknown - g.207659606C>A - - - FASTKD2_000051 MSCV_0019448 - - ; clinvar; - - - -
./. - - c.*3112A>G p.(=) - - - - 2 Unknown - g.207659638A>G - - - FASTKD2_000035 MSCV_0019449 - - ; clinvar; - - - -
./. - - c.*3238G>A p.(=) - - - - 2 Unknown - g.207659764G>A - - - FASTKD2_000036 MSCV_0019450 - - ; clinvar; - - - -
./. - - c.*3355C>T p.(=) - - - - 2 Unknown - g.207659881C>T - - - FASTKD2_000037 MSCV_0019451 - - ; clinvar; - - - -
./. - - c.*3380G>A p.(=) - - - - 2 Unknown - g.207659906G>A - - - FASTKD2_000038 MSCV_0019452 - - ; clinvar; - - - -
./. - - c.*3472C>T p.(=) - - - - 2 Unknown - g.207659998C>T - - - FASTKD2_000039 MSCV_0019453 - - ; clinvar; - - - -
./. - - c.*3592C>T p.(=) - - - - 2 Unknown - g.207660118C>T - - - FASTKD2_000040 MSCV_0019454 - - ; clinvar; - - - -
./. - - c.*3593G>A p.(=) - - - - 2 Unknown - g.207660119G>A - - - FASTKD2_000041 MSCV_0019455 - - ; clinvar; - - - -
./. - - c.*3683G>T p.(=) - - - - 2 Unknown - g.207660209G>T - - - FASTKD2_000042 MSCV_0019456 - - ; clinvar; - - - -
./. - - c.*3710C>T p.(=) - - - - 2 Unknown - g.207660236C>T - - - FASTKD2_000043 MSCV_0019457 - - ; clinvar; - - - -
./. - - c.*3775C>T p.(=) - - - - 2 Unknown - g.207660301C>T - - - FASTKD2_000044 MSCV_0019458 - - ; clinvar; - - - -
./. - - c.*3896A>C p.(=) - - - - 2 Unknown - g.207660422A>C - - - FASTKD2_000045 MSCV_0019459 - - ; clinvar; - - - -
./. - - c.*3990G>C p.(=) - - - - 2 Unknown - g.207660516G>C - - - FASTKD2_000046 MSCV_0019460 - - ; clinvar; - - - -
./. - - c.*4142T>C p.(=) - - - - 2 Unknown - g.207660668T>C - - - FASTKD2_000047 MSCV_0019461 - - ; clinvar; - - - -
./. - - c.*4199G>C p.(=) - - - - 2 Unknown - g.207660725G>C - - - FASTKD2_000048 MSCV_0019462 - - ; clinvar; - - - -
./. - - c.*4201C>T p.(=) - - - - 2 Unknown - g.207660727C>T - - - FASTKD2_000004 MSCV_0019463 - - ; clinvar; - - - -
./. - - c.*4360A>G p.(=) - - - - 2 Unknown - g.207660886A>G - - - FASTKD2_000005 MSCV_0019464 - - ; clinvar; - - - -
Legend  

Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium