Transcript #00000046 (NM_000071.2, CBS gene)

Transcript name cystathionine-beta-synthase, transcript variant 1
Gene name CBS (cystathionine-beta-synthase)
Chromosome 21
Transcript - NCBI ID NM_000071.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000062.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

1015 entries on 11 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

Protein     
+/. 12 c.[1105C>T;1471C>T] - - p.[Arg369Cys;Arg491Cys]
-/. _1 c.(-3469_-3466del) CTTT[5] r.(=) p.(=)
+/. 5 c.[172C>T;341C>T] - - p.[Arg58Trp;Ala114Val]
+/. 4 c.[233C>G;306G>C] - - p.[Pro78Arg;Lys12Asn]
+/. 5 c.[374G>A;393G>C] - - p.[Arg125Gln;Glu131Asp]
+/. 5 c.[430G>A;1316G>A] - - p.[Glu144Lys;Arg439Gln]
+/. 3 c.19dup - r.(?) p.(Gln7Profs*30)
+/. 3 c.19dup - r.(?) p.(Gln7Profs*30)
+/. 3 c.19dup - r.(?) p.(Gln7Profs*30)
+/. 3 c.19dup - r.(?) p.(Gln7Profs*30)
+/. 3 c.19dup - r.(?) p.(Gln7Profs*30)
+/. 3 c.19dup - r.(?) p.(Gln7Profs*30)
+/. 3 c.19dup - r.(?) p.(Gln7Profs*30)
+?/. - c.28del - r.(?) p.(Val10TrpfsTer72)
+/. 3 c.28del - r.(?) p.(Val10Trpfs*72)
+/. 3 c.28del - r.(?) p.(Val10Trpfs*72)
+/. 3 c.28del - r.(?) p.(Val10Trpfs*72)
-/. - c.52C>T - r.(?) p.(Arg18Cys)
-/. - c.52C>T - r.(?) p.(Arg18Cys)
-/. ? c.52C>T - r.(?) p.(Arg18Cys)
+/. 3 c.103G>A - r.(?) p.(Asp35Asn)
+/. 3 c.129G>A - r.(?) p.(Trp43*)
?/. - c.133C>T - r.(?) p.(Arg45Trp)
+/. ? c.141T>A - r.(?) p.(Asp47Glu)
+/. 3 c.146C>T - r.(?) p.(Pro49Leu)
+/. 3 c.146C>T - r.(?) p.(Pro49Leu)
+/. 3 c.146C>T - r.(?) p.(Pro49Leu)
?/. - c.146C>T - r.(?) p.(Pro49Leu)
+/. ? c.146C>T - r.(?) p.(Pro49Leu)
+/. ? c.146C>T - r.(?) p.(Pro49Leu)
+/. 3 c.146C>T - r.(?) p.(Pro49Leu)
+/. 3 c.172C>T - r.(?) p.Arg58Trp
?/. - c.172C>T - r.(?) p.(Arg58Trp)
+/. ? c.172C>T - r.(?) p.(Arg58Trp)
+/. 3 c.172C>T - r.(?) p.(Arg58Trp)
+/. 3 c.194A>C - r.(?) p.(His65Pro)
+/. 3 c.194A>G - r.(?) p.(His65Arg)
+/. 3 c.194A>G - r.(?) p.(His65Arg)
+/. 3 c.194A>G - r.(?) p.(His65Arg)
+/. 3_3i c.208_209+8del - r.spl p.0?
+/. 3i c.209+1G>A - r.[153_209del,-8_209del] p.?
+/. 3i c.209+1G>A - r.[153_209del,-8_209del] p.?
+/. 3i c.209+1G>A - r.[153_209del,-8_209del] p.?
+/. 3i c.209+1G>A - r.[153_209del,-8_209del] p.?
+/. 3i c.209+1G>A - r.[-8_209del,153_209del] p.?
+/. 3i c.209+1_209+2insC - r.spl p.?
+/. 3i c.210-1G>C - r.spl p.?
+/. 3i c.210-1G>C - r.spl p.?
+/. 3i c.210-1G>C - r.spl p.?
-?/. - c.215A>T - r.(?) p.(Lys72Ile)
+/. 4 c.233C>G - r.(?) p.Pro78Arg
+/. 4 c.233C>G - r.233c>g p.Pro78Arg
+/. 4 c.233C>G - r.233c>g p.Pro78Arg
+/. 4 c.253G>A - r.(?) p.(Gly85Arg)
+/. 4 c.253G>A - r.(?) p.(Gly85Arg)
+/. 4 c.253G>A - r.(?) p.(Gly85Arg)
+/. - c.253G>A - r.(?) p.(Gly85Arg)
+/. 4 c.253G>A - r.(?) p.(Gly85Arg)
+/. 4 c.253G>A - r.(?) p.(Gly85Arg)
+/. ? c.253G>A - r.(?) p.(Gly85Arg)
+/. 4 c.256del - r.(?) p.(Asp86Thrfs*16)
+/. 4 c.260C>A - r.(?) p.(Thr87Asn)
+/. ? c.262C>T - r.(?) p.(Pro88Ser)
+/. 4 c.262C>T - r.(?) p.(Pro88Ser)
+/. ? c.262C>T - r.(?) p.(Pro88Ser)
+/. ? c.262C>T - r.(?) p.(Pro88Ser)
+/. 4 c.302T>C - r.(?) p.(Leu101Pro)
+/. 4 c.302T>C - r.(?) p.(Leu101Pro)
+/. 4 c.302T>C - r.(?) p.(Leu101Pro)
+/. 4 c.302T>C - r.(?) p.(Leu101Pro)
+/. 4 c.302T>C - r.(?) p.(Leu101Pro)
-/. - c.304A>C - r.(?) p.(Lys102Gln)
+/. 4 c.304A>C - r.(?) p.(Lys102Gln)
?/. 4 c.304A>C - r.(?) p.(Lys102Gln)
+/. 4 c.304A>C - r.(?) p.(Lys102Gln)
+/. 4 c.304A>C - r.(?) p.(Lys102Gln)
-?/. - c.304A>C - r.(?) p.(Lys102Gln)
+/. 4 c.306G>C - r.(?) p.Lys12Asn
+/. 4 c.306G>C - r.306g>c p.Lys102Asn
+/. 4 c.306G>C - r.306g>c p.Lys102Asn
+/. 4 c.313_316del - r.(?) p.(Leu105Trpfs*13)
-/. - c.316+728C>T - r.(=) p.(=)
+/. 5 c.325T>C - r.(?) p.(Cys109Arg)
+/. 5 c.325T>C - r.(?) p.(Cys109Arg)
+/. 5 c.325T>C - r.(?) p.(Cys109Arg)
+/. - c.325T>C - r.(?) p.(Cys109Arg)
+/. 5 c.341C>T - r.(?) p.(Ala114Val)
+/. 5 c.341C>T - r.(?) p.Ala114Val
+/. ? c.341C>T - r.(?) p.(Ala114Val)
+/. ? c.341C>T - r.(?) p.(Ala114Val)
+/. ? c.341C>T - r.(?) p.(Ala114Val)
+/. ? c.341C>T - r.(?) p.(Ala114Val)
+/. ? c.341C>T - r.(?) p.(Ala114Val)
+/. ? c.341C>T - r.(?) p.(Ala114Val)
+/. 5 c.341C>T - r.(?) p.(Ala114Val)
+/. 5 c.341C>T - r.(?) p.(Ala114Val)
+/. 5 c.341C>T - r.(?) p.(Ala114Val)
+/. 5 c.341C>T - r.(?) p.(Ala114Val)
+/. 5 c.341C>T - r.(?) p.(Ala114Val)
+/. 5 c.341C>T - r.(?) p.(Ala114Val)
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