Transcript #00003284

Transcript name transcript variant 1
Gene name COL6A3 (collagen, type VI, alpha 3)
Chromosome 2
Transcript - NCBI ID NM_004369.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_004360.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

29 entries on 1 page. Showing entries 1 - 29.
Legend  

Affects function     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
./. c.252C>T - - - - - - -
./. c.575C>T - - - - - - -
./. c.893C>T - - - - - - -
./. c.1216C>T - - - - - - -
./. c.1327A>G - - - - - - -
./. c.1385A>G - - - - - - -
./. c.1795_1796delinsAT - - - - - - -
+?/+? c.3191G>A p.(Arg1064Gln) missense_variant - 8/44 possibly_damaging(0.49) r.(?) -
./. c.3228C>G - - - - - - -
./. c.3852C>A - - - - - - -
./. c.4121A>T - - - - - - -
-/- c.4184G>A p.(Arg1395Gln) missense_variant - 9/44 possibly_damaging(0.692) r.(?) -
./. c.4252_4254del - - - - - - -
./. c.4678G>A - - - - - - -
./. c.4726C>T - - - - - - -
./. c.5036G>A - - - - - - -
./. c.5575G>A - - - - - - -
./. c.5590G>A - - - - - - -
./. c.5649C>A - - - - - - -
./. c.5968C>T - - - - - - -
./. c.6064-5G>A - - - - - - -
./. c.6237C>T - - - - - - -
./. c.6355-1G>A - - - - - - -
./. c.6538-4C>T - - - - - - -
./. c.6798C>T - - - - - - -
./. c.6859del - - - - - - -
./. c.7174G>A - - - - - - -
./. c.8428A>C - - - - - - -
./. c.8805G>A - - - - - - -
Legend