View all transcript variants in gene MT-TW

MSeqDR-LSDB: Mitochondrial Disease LSDB
Information The variants shown are described using the MT-TW-201 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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     

Variant_disease     

Owner     
+?/+? - . . . - - - - M Unknown subst m.5514A>G - -3.630 - chrM_001290 MSCV_0004639 - - ; Mitomap; - - - - -
+?/+? - . . . - - - - M Unknown subst m.5523T>G - 2.760 - chrM_000304 MSCV_0004641 - - ; Mitomap; - - - - -
+/+ - . . . - - - - M Unknown ins m.5537_5538insAG - - - chrM_000306 MSCV_0004643 rs199474672 - ; clinVar; Mitomap; 12776230;9266739 - - - -
+?/+? - . . . - - - - M Unknown subst m.5540G>A - 4.280 - chrM_000309 MSCV_0004645 - - ; Mitomap; - - - - -
+?/+? - . . . - - - - M Unknown subst m.5541C>T - 5.090 - chrM_000310 MSCV_0004646 - - ; Mitomap; - - - - -
+?/+? - . . . - - - - M Unknown subst m.5543T>C - 5.090 - chrM_000312 MSCV_0004647 - - ; Mitomap; - - - - -
+/+ - . . . - - - - M Unknown subst m.5556G>C - 4.360 - chrM_000315 MSCV_0004651 rs387906736 - ; clinVar; Mitomap; ensembl; 19809478 - - - -
+?/+? - . . . - - - - M Unknown subst m.5559A>G - 0.940 - chrM_000316 MSCV_0004652 rs370471013 - ; Mitomap; - - - - -
+?/+? - . . . - - - - M Unknown subst m.5567T>C - -6.300 - chrM_000317 MSCV_0004653 - - ; Mitomap; - - - - -
+?/+? - . . . - - - - M Unknown subst m.5568A>G - -0.571 - chrM_000319 MSCV_0004654 rs200719361 - ; Mitomap; - - - - -
+/+ - . . . - - - - M Unknown subst m.5521G>A - 4.170 - chrM_000023 MSCV_0001378 rs199474673 - ; clinVar; Mitomap; Ensembl; 9673981 - - - -
+/+ - . . . - - - - M Unknown subst m.5532G>A - 4.260 - chrM_000024 MSCV_0001379 rs199474674 - ; clinVar; Mitomap; Ensembl; 15054399 - - - -
./. - . . . - - - - M Unknown ins m.5537_5538insT - - - chrM_000025 MSCV_0001380 - - ; - - - - -
+/+ - . . . - - - - M Unknown subst m.5545C>T - 4.080 - chrM_000209 MSCV_0001381 rs387906418 - ; clinVar; Mitomap; ensembl; 18337306 - - - -
+/+ - . . . - - - - M Unknown subst m.5549G>A - 4.360 - chrM_000210 MSCV_0001382 rs199474671 - ; clinVar; Mitomap; Ensembl; 7695240 - - - -
+/+ - . . . - - - - M Unknown subst m.5556G>A - 4.360 - chrM_000211 MSCV_0001383 rs387906736 - ; clinVar; Mitomap; ensembl; 19809478 - - - -
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium