Transcript #00024013

Transcript name transcript variant 4
Gene name GK (glycerol kinase)
Chromosome X
Transcript - NCBI ID NM_001205019.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001191948.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

97 entries on 1 page. Showing entries 1 - 97.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+/. 1_21 c.(?_-179)_(*1866_?)del pathogenic (recessive) r.0 p.0
+/. - c.(?_-1)_(*1_?)del - r.0 p.0
+/. - c.(?_-1)_(*1_?)del - r.0 p.0
+/. _1_21_ c.(?_-1)_(*1_?)del - r.0 p.0
+/+ _1_21_ c.(?_-1)_(*1_?)del - r.0 p.0
+/+ -1-21_ c.(?_-1)_(*1_?)del - r.0? p.0?
+/+ _1_21_ c.0 - r.0 p.0
+/+ _1_21_ c.0 - r.0 p.0
+/+ _1_21_ c.0 - r.0 p.0
+/+ _1_21_ c.0 - r.0 p.0
+/+ _1_21_ c.0 - r.0 p.0
+/+ _1_21_ c.0 - r.0 p.0
+/+ _1_21_ c.0 - r.0 p.0
+/+ _1_21_ c.0 - r.0 p.0
+/+ _1_21_ c.0 - r.0 p.0
+/+ - c.0 - r.0 p.0
+/+ - c.0 - r.0 p.0
+/. _1_21_ c.0 pathogenic (recessive) r.0 p.0
+/. _1_21_ c.0 pathogenic (recessive) r.0 p.0
+/. 1_21 c.? pathogenic (recessive) r.(?) p.?
+/. 1_21 c.? pathogenic (recessive) r.(?) p.?
./. - c.78+164G>C - r.(=) p.(=)
-/. 3 c.165G>A benign r.(?) p.(=)
-/. 3 c.165G>A benign r.(?) p.(=)
-/. 3 c.165G>A benign r.(?) p.(=)
-?/. 3 c.165G>A likely benign r.(?) p.(=)
./. - c.165G>A - r.(=) p.(=)
./. - c.165G>A - r.(=) p.(=)
+/. 3 c.182T>C pathogenic (recessive) r.182u>c p.Leu61Pro
+/. 3i c.259+1G>A pathogenic (recessive) r.153_259del p.Trp52Tyrfs*29
+/. 3i c.259+2254G>A pathogenic (recessive) r.[259_260ins259+2256_259+2467, 153_59delins259+2256_259+2467] p.[Ala87Valfs*3, Trp52Tyrfs*24]
+/. 3i c.259+2254G>A pathogenic (recessive) r.[259_260ins259+2256_259+2467, 153_59delins259+2256_259+2467] p.[Ala87Valfs*3, Trp52Tyrfs*24]
+/. 4 c.287C>T pathogenic (recessive) r.(?) p.(Thr96Ile)
./. - c.337+385dup - r.(=) p.(=)
+?/. 4i c.338-43_338-42ins316; 338-52_338-43dup likely pathogenic (recessive) r.[=, 338_414del] p.[=, Trp114Glnfs*7]
+/. 4i c.338-1G>A pathogenic (recessive) r.338_414del p.Trp114Glnfs*7
./. - c.552+142G>C - r.(=) p.(=)
./. - c.552+142G>C - r.(=) p.(=)
./. - c.553-102C>T - r.(=) p.(=)
./. - c.553-102C>T - r.(=) p.(=)
+/. 7 c.553-1G>C pathogenic (recessive) r.553_554del p.Ser184Phefs*17
+/. 7 c.593A>G pathogenic (recessive) r.(?) p.(Asp198Gly)
+/. 7 c.601A>G pathogenic (recessive) r.(?) p.(Asn201Asp)
-?/. - c.661G>A likely benign r.(?) p.(Glu221Lys)
-/. 8i c.729+17C>A benign r.(?) p.(=)
-?/. - c.729+21_729+24dup likely benign - -
./. - c.730-252T>C - r.(=) p.(=)
./. - c.730-22C>T - r.(=) p.(=)
./. - c.730-22C>T - r.(=) p.(=)
-?/. - c.745G>A likely benign - -
-?/. - c.748-9T>C likely benign r.(=) p.(=)
-?/. - c.748-5A>T likely benign - -
./. - c.784-79_784-78insAAAT - r.(=) p.(=)
./. - c.784-79_784-78insAAAT - r.(=) p.(=)
./. - c.784-75_784-74insAAAT - r.(=) p.(=)
./. - c.784-75_784-74insAAAT - r.(=) p.(=)
+/. 11 c.784T>C pathogenic (recessive) r.784u>c p.262CysArg
+/. 11 c.851C>T - r.(spl?) p.(Thr284Met)
+?/. - c.851C>T likely pathogenic r.(?) p.(Thr284Met)
./. - c.851+334A>G - r.(=) p.(=)
+/. 11i c.852-1G>A pathogenic (recessive) r.spl p.?
+/. 11i c.852-1G>A pathogenic (recessive) r.spl p.?
+/. 11i c.(851+1_852-1)_(*1866_?)del pathogenic (recessive) r.? p.?
+/. 11i c.(851+1_852-1)_(*1866_?)del pathogenic (recessive) r.? p.?
+/. 11i c.(851+1_852-1)_(*1866_?)del pathogenic (recessive) r.? p.?
+/. 11i c.(851+1_852-1)_(*1866_?)del pathogenic (recessive) r.? p.?
+/. 12 c.857G>C pathogenic (recessive) r.(?) p.(Gly286Ala)
+/. 12 c.880A>G pathogenic (recessive) r.(?) p.(Asn294Asp)
+/. 12 c.880A>G pathogenic (recessive) r.(?) p.(Asn294Asp)
+/. 12i c.894+1G>T pathogenic (recessive) r.852_894del p.Tyr845Valfs*30
+/. 13 c.932C>T pathogenic (recessive) r.(?) p.(Ala311Val)
+/. 13 c.946A>T pathogenic (recessive) r.(?) p.(Arg316*)
./. - c.1054+22G>T - r.(=) p.(=)
./. - c.1054+22G>T - r.(=) p.(=)
-/. 14i c.1055+22G>T benign r.(?) p.(=)
+/. 15 c.1091G>A pathogenic (recessive) r.(?) p.(Cys364Tyr)
+/. 16 c.1212A>C pathogenic (recessive) r.1212a>c p.Glu404Asp
+/. 16 c.1225C>T pathogenic (recessive) r.(?) p.(Gln409*)
+/. 16 c.1225C>T pathogenic (recessive) r.(?) p.(Gln409*)
+/. - c.1231C>T pathogenic - -
+/. 16 c.1232G>A pathogenic (recessive) r.(?) p.(Arg411Gln)
?/. - c.1236+1G>A VUS r.spl? p.?
+/. 17 c.1255C>T pathogenic (recessive) r.(?) p.(Arg419*)
+/. 17 c.1301T>C pathogenic (recessive) r.(?) p.(Met434Thr)
+/. 17 c.1331A>G pathogenic (recessive) r.(?) p.(Gln444Arg)
+/. 17 c.1337A>T pathogenic (recessive) r.1337a>u p.Asp446Val
-/. 17i c.1357+20T>C benign r.? p.?
./. - c.1357+20T>C - r.(=) p.(=)
./. - c.1357+20T>C - r.(=) p.(=)
+/. 18i c.(1501+1_1502-1)_(1582+1_1583-1)del pathogenic (recessive) r.1502_1582del p.Ser502_Gly528del
+/. 18i c.(1501+1_1502-1)_(1582+1_1583-1)del pathogenic (recessive) r.1502_1582del p.Ser502_Gly528del
+/. 18i c.(1501+1_1502-1)_(1582+1_1583-1)del pathogenic (recessive) r.(?) p.Ser502_Gly528del
+/. 19 c.1525T>C pathogenic (recessive) r.(?) p.(Trp509Arg)
+/. 19 c.1525T>C pathogenic (recessive) r.(?) p.(Trp509Arg)
+/. 19 c.1525T>C pathogenic (recessive) r.(?) p.(Trp509Arg)
./. - c.*340C>T - r.(=) p.(=)
./. - c.*340C>T - r.(=) p.(=)
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