Transcript #00008556

Transcript name galactosidase, alpha
Gene name GLA (galactosidase, alpha)
Chromosome X
Transcript - NCBI ID NM_000169.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000160.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

771 entries on 8 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. _1 c.-573C>G - r.spl p.?
-/. - c.-30G>A benign r.(=) p.(=)
+/. 1 c.-30G>A - r.spl p.?
-/. - c.-30G>A benign r.(=) p.(=)
-/. - c.-12C>T benign - -
-/. - c.-12G>A benign r.(=) p.(=)
-/. - c.-12G>A benign r.(=) p.(=)
-/. - c.-12G>A benign r.(=) p.(=)
-/. - c.-12G>A benign r.(=) p.(=)
-/. - c.-10C>T benign r.(=) p.(=)
-/. - c.-10C>T benign r.(=) p.(=)
-/. - c.-10C>T benign r.(=) p.(=)
-/. - c.-10C>T benign r.(=) p.(=)
-/. - c.-10G>A benign - -
+/. ? c.? - r.(?) p.(K213N
+/. ? c.? - r.(?) p.(K240A
+/. ? c.? - r.(?) p.(L120P
+/. ? c.? - r.(?) p.(L166G
+/. ? c.? - r.(?) p.(L311F
+/. ? c.? - r.(?) p.(L394R
+/. ? c.? - r.(?) p.(L3R
+/. ? c.? - r.(?) p.(L89K
+/. ? c.? - r.(?) p.(M187I
+/. ? c.? - r.(?) p.(M267L
+/. ? c.? - r.(?) p.(N192Q
+/. ? c.? - r.(?) p.(N215H
+/. ? c.? - r.(?) p.(N278E
+/. ? c.? - r.(?) p.(N278S
+/. ? c.? - r.(?) p.(P409A
+/. ? c.? - r.(?) p.(P409D
+/. ? c.? - r.(?) p.(P40T
+/. ? c.? - r.(?) p.(Q280S
+/. ? c.? - r.(?) p.(Q57L
+/. ? c.? - r.(?) p.(S276C
+/. ? c.? - r.(?) p.(S65A
+/. ? c.? - r.(?) p.(S65T
+/. ? c.? - r.(?) p.(V22P
+/. ? c.? - r.(?) p.(V281R
+/. ? c.? - r.(?) p.(W277L
+/. ? c.? - r.(?) p.(Y123M
+/. ? c.? - r.(?) p.(E66D
+/. ? c.? - r.(?) p.(F273K
+/. ? c.? - r.(?) p.(F396Y
+/. ? c.? - r.(?) p.(G132T
+/. ? c.? - r.(?) p.(G43F
+/. ? c.? - r.(?) p.(G85N
+/. ? c.? - r.(?) p.(H46S
+/. ? c.? - r.(?) p.(I219N
+/. 1 c.1A>G - r.? p.0?
+/. 1 c.2T>A - r.? p.0?
+/. 1 c.2T>C - r.(?) p.0?
+/. 1 c.2T>G - r.(?) p.0?
+/. 1 c.3G>A - r.(?) p.0?
+/. ? c.18delA - r.? p.(Glu7Asnfs*114)
+/. 1 c.19G>T - r.? p.(Glu7*)
+/. 1 c.26delA - r.? p.(His9Leufs*112)
+/. 1 c.32delG - r.? p.(Gly11Alafs*110)
?/. 1 c.33delC - r.? p.(Cys12Alafs*109)
+/. 1 c.34_42del - r.? p.(Cys12_Leu14del)
+/. 1 c.35_47del - r.? p.(Cys12Phefs*105)
+/. 1 c.38C>G - r.(?) p.(Ala13Gly)
+/. 1 c.41T>C - r.(?) p.(Leu14Pro)
+/. 1 c.44C>G - r.(?) p.(Ala15Gly)
+/. 1 c.47T>C - r.(?) p.(Leu16Pro)
-?/. - c.48T>G likely benign r.(=) p.(=)
+/. - c.53T>C pathogenic r.(?) p.(Phe18Ser)
+/. 1 c.53T>C - r.(?) p.(Phe18Ser)
+/. 4 c.56T>C - r.(?) p.(Leu19Pro)
+/. 1 c.58G>C - r.(?) p.(Ala20Pro)
+/. 1 c.59_73del - r.? p.(Ala20_Trp24del)
+/. 1 c.70T>G - r.(?) p.(Trp24Gly)
+/. 1 c.85dupG - r.? p.(Ala29Glyfs*2)
+/. 1 c.92C>T - r.(?) p.(Ala31Val)
+/. 1 c.95T>C - r.(?) p.(Leu32Pro)
+/. 1 c.100A>G - r.(?) p.(Asn34Asp)
+/. ? c.101A>G - r.(?) p.(Asn34Ser)
+/. ? c.102T>G - r.(?) p.(Asn34Lys)
+/. ? c.103G>A - r.(?) p.(Gly35Arg)
+/. ? c.107T>C - r.(?) p.(Leu36Ser)
+/. ? c.108G>T - r.? p.(Leu36Phe)
+/. ? c.109G>A - r.(?) p.(Ala37Thr)
+/. ? c.110C>T - r.? p.(Ala37Val)
+/. ? c.118C>G - r.(?) p.(Pro40Ala)
+/. ? c.118C>T - r.(?) p.(Pro40Ser)
?/. ? c.119C>A - r.? p.(Pro40His)
+/. ? c.119C>T - r.(?) p.(Pro40Leu)
+/. ? c.122C>T - r.(?) p.(Thr41Ile)
-?/. - c.123C>T likely benign r.(=) p.(=)
-?/. - c.123C>T likely benign r.(=) p.(=)
+/. ? c.123delC - r.? p.(Met42Trpfs*79)
+/. ? c.123_126dup - r.? p.(Gly43Hisfs*14)
+/. ? c.124A>C - r.(?) p.(Met42Leu)
+/. ? c.124A>G - r.(?) p.(Met42Val)
+/. ? c.124_125del - r.? p.(Met42Glyfs*13)
+/. ? c.125T>C - r.(?) p.(Met42Thr)
+/. ? c.125T>G - r.? p.(Met42Arg)
+/. ? c.125_137del - r.? p.(Met42Thrfs*75)
+/. ? c.127G>A - r.? p.(Gly43Ser)
+/. ? c.127G>C - r.(?) p.(Gly43Arg)
+/. ? c.128G>A - r.(?) p.(Gly43Asp)
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