Transcript #00018798 (NM_000023.2, SGCA gene)

Transcript name transcript variant 1
Gene name SGCA (sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein))
Chromosome 17
Transcript - NCBI ID NM_000023.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000014.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

959 entries on 10 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. _1_7i c.-36_(956+1_957-1)dup r.? p.?
?/. 5' UTR c.-5C>G r.(?) p.(=)
+/. _1_10_ c.(?_-1)_(*1_?)del r.0? p.0?
+/. 3 c.(157+1_158-1)_(312+1_313-1)? r.158_312del p.Ala53Glyfs*10
-/. 6i c.747+161_747+192AC[15_21] r.(=) p.(=)
+/. 1 c.1A>G r.(?) p.0?
+?/. - c.2T>C r.(?) p.0?
?/. 1 c.34G>A r.(?) p.(Val12Met)
?/. 1 c.34G>A r.(?) p.(Val12Met)
+/. 1i c.37+1G>C r.spl? p.(?)
+/. 1i c.37+2C>G r.spl p.?
+/. 1 c.(37+3A>T) r.spl p.(?)
+/. 1 c.(37+3A>T) r.spl p.(?)
+/. 1i c.37+3A>T r.spl p.(?)
+/. 1i c.37+3A>T r.spl? p.(?)
+/. 1i c.37+3A>T r.spl? p.?
+/. 1i c.37+3A>T r.(spl?) p.?
+/. 1i c.37+3A>T r.spl? p.?
?/. 1i c.37+3A>T r.spl? p.(?)
?/. 1i c.37+3A>T r.spl? p.(?)
?/. 1i c.37+6T>C r.(?) p.(?)
?/. 1i c.37+6T>C r.(spl?) p.(?)
?/. 1i c.37+6T>C r.(spl?) p.(?)
-/. 1i c.37+23G>A r.(?) p.(=)
-?/. 1i c.37+23G>A r.(?) p.(=)
-?/. 1i c.37+23G>A r.(?) p.(=)
?/. 1i c.37+23G>A r.(?) p.(=)
-/. 1i c.37+23G>T r.(=) p.(=)
-/. 1i c.37+27A>G r.(=) p.(=)
-/. 1i c.37+27A>G r.(=) p.(=)
-/. - c.37+66C>T r.(=) p.(=)
-?/. 1i c.37+66C>T r.(=) p.(=)
-?/. 1i c.37+66C>T r.(=) p.(=)
?/. 1i c.38-46G>C r.(?) p.(=)
?/. 2 c.62C>T r.(?) p.(Thr21Ile)
-?/. - c.62C>T r.(?) p.(Thr21Ile)
+/. 2 c.73C>T r.(?) p.(Gln25*)
+/. 2 c.73C>T r.(?) p.(Gln25*)
?/. 2 c.80C>T r.(?) p.(Thr27Met)
?/. 2 c.85C>T r.(?) p.(His29Tyr)
+/. 2 c.86dup r.86dup p.His29Glnfs*15
+/. 2 c.86dup r.(?) p.(His29Glnfs*15)
+/. 2 c.86dup r.(?) p.(His29Glnfs*15)
+/. 2 c.86dup r.(?) p.(His29Glnfs*15)
+/. 2 c.86dup r.(?) p.(His29Glnfs*15)
+/. 2 c.86dup r.(?) p.(His29Glnfs*15)
?/. 2 c.88C>A r.(?) p.(Pro30Thr)
+/. - c.88C>A r.(?) p.(Pro30Thr)
?/. 2 c.88C>A r.(?) p.(Pro30Thr)
+/. 2 c.88_112del r.(?) p.(Pro30Thrfs*9)
?/. 2 c.89C>T r.(?) p.(Pro30Leu)
?/. 2 c.89C>T r.(?) p.(Pro30Leu)
+/. 2 c.92T>C r.(?) p.(Leu31Pro)
+/. 2 c.92T>C r.92u>c p.Leu31Pro
+/. 2 c.92T>C r.(?) p.(Leu31Pro)
+/. 2 c.92T>C r.(?) p.(Leu31Pro)
+/. 2 c.92T>C r.(?) p.(Leu31Pro)
+/. 2 c.92T>C r.(?) p.(Leu31Pro)
+?/. - c.92T>C r.(?) p.(Leu31Pro)
+/. 2 c.92T>C r.(?) p.(Leu31Pro)
+/. - c.95T>C r.(?) p.(Val32Ala)
+/. 2 c.95T>C r.(?) p.(Val32Ala)
+/. 2 c.95T>C r.(?) p.(Val32Ala)
+/. 2 c.95T>C r.(?) p.(Val32Ala)
+/. - c.95T>C r.(?) p.(Val32Ala)
+/. 2 c.100C>T r.(?) p.(Arg34Cys)
+/. 2 c.100C>T r.(?) p.(Arg34Cys)
+?/. - c.100C>T r.(?) p.(Arg34Cys)
+/. 2 c.100C>T r.(?) p.(Arg34Cys)
+/. 2 c.100C>T r.(?) p.(Arg34Cys)
?/. 2 c.100C>T r.(?) p.(Arg34Cys)
?/. 3 c.100C>T r.(?) p.(Arg34Cys)
?/. 2 c.100C>T r.(?) p.(Arg34Cys)
?/. 2 c.100C>T r.(?) p.(Arg34Cys)
+/. 2 c.100C>T r.(?) p.(Arg34Cys)
+/. 2 c.101G>A r.(?) p.(Arg34His)
+/. 2 c.101G>A r.(?) p.(Arg34His)
+/. 2 c.101G>A r.(?) p.(Arg34His)
+/. 2 c.101G>A r.101g>a p.Arg34His
+/. 2 c.101G>A r.101g>a p.Arg34His
+/. 2 c.101G>A r.101g>a p.Arg34His
+/. 2 c.101G>A r.(?) p.(Arg34His)
+/. 2 c.101G>A r.(?) p.(Arg34His)
+/. 2 c.101G>A r.(?) p.(Arg34His)
+/. 2 c.101G>A r.(?) p.(Arg34His)
+/. - c.101G>A r.(?) p.(Arg34His)
+/. 2 c.101G>A r.(?) p.(Arg34His)
+/. - c.101G>A r.(?) p.(Arg34His)
+/. - c.101G>A r.(?) p.(Arg34His)
+/. 2 c.101G>A r.(?) p.(Arg34His)
?/. 2 c.101G>A r.(?) p.(Arg34His)
?/. 2 c.101G>A r.(?) p.(Arg34His)
+/. 2 c.101G>A r.(?) p.(Arg34His)
+/. 2 c.101G>A r.(?) p.(Arg34His)
+/. 2 c.101G>A r.(?) p.(Arg34His)
+/. 2 c.101G>A r.(?) p.(Arg34His)
+/. - c.101G>A r.(?) p.(Arg34His)
+/. - c.101G>A r.(?) p.(Arg34His)
+/. - c.101G>A r.(?) p.(Arg34His)
+/. 2 c.101G>T r.(?) p.(Arg34Leu)
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