Transcript #00000148 (NM_001178007.1, BBS12 gene)

Transcript name Bardet-Biedl syndrome 12, transcript variant 1
Gene name BBS12 (Bardet-Biedl syndrome 12)
Chromosome 4
Transcript - NCBI ID NM_001178007.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001171478.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

221 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.? r.(?) p.?
+?/. - c.? r.(?) p.?
+?/. - c.? r.(?) p.?
+?/. - c.? r.(?) p.?
+/. - c.? r.(?) p.K243IfsX15
+/. - c.? r.(?) p.K243IfsX15
+/. - c.? r.(?) p.K243IfsX15
+/. - c.? r.(?) p.K243IfsX15
+/. - c.? r.(?) p.D480MfsX3
+?/. - c.? r.(?) p.?
+?/. - c.? r.(?) p.?
+?/. - c.? r.(?) p.?
?/. - c.? r.(?) p.?
+?/. - c.? r.(?) p.?
+?/. - c.? r.(?) p.?
+?/. - c.? r.(?) p.?
-/. - c.-312G>A r.(?) p.(=)
-/. - c.51A>G r.(?) p.(Gln17=)
-?/. - c.58T>C r.(?) p.(Ser20Pro)
?/. - c.67G>A r.(?) p.(Ala23Thr)
-?/. - c.75A>G r.(?) p.(Thr25=)
-?/. - c.105A>T r.(?) p.(Ser35=)
-/. - c.116T>C r.(?) p.(Ile39Thr)
-/. - c.116T>C r.(?) p.(Ile39Thr)
?/. - c.116T>C r.(?) p.(Ile39Thr)
+/. 3 c.116T>C r.(?) p.(Ile39Thr)
?/. - c.116T>C r.(?) p.(Ile39Thr)
+?/. 2 c.116T>C c.116T>C p.(Ile39Thr)
?/. - c.116T>C r.(?) p.(Ile39Thr)
-/. 3 c.116T>C r.(?) p.(Ile39Thr)
-?/. - c.212A>G r.(?) p.(Asn71Ser)
-?/. - c.212A>G r.(?) p.(Asn71Ser)
+?/. 3 c.223del r.(?) p.(Gln75Lysfs*37)
+?/. 3 c.263T>G r.(?) p.(Leu88Arg)
+?/. 3 c.263T>G r.(?) p.(Leu88Arg)
+?/. 3 c.263T>G r.(?) p.(Leu88Arg)
+?/. 3 c.263T>G r.(?) p.(Leu88Arg)
+/. - c.265_266del r.(?) p.(Leu89Valfs*11)
+?/. 3 c.270del r.(?) p.(Val92Leufs*20)
?/. - c.274G>A r.(?) p.(Val92Ile)
+?/. 3 c.323C>G r.(?) p.(Pro108Arg)
+/. 3 c.323C>T r.(?) p.(Pro108Leu)
+/. 3 c.323C>T r.(?) p.(Pro108Leu)
+?/. 3 c.335_337del r.(?) p.(Val113del)
-?/. - c.355G>A r.(?) p.(Gly119Ser)
?/. - c.355G>A r.(?) p.(Gly119Ser)
-?/. 3 c.355G>A r.(?) p.(Gly119Ser)
+/. 3 c.355G>A r.(?) p.(Gly119Ser)
+?/. 3 c.355G>A r.(?) p.(Gly119Ser)
+/. 3 c.355G>A r.(?) p.(Gly119Ser)
-/. - c.378G>T r.(?) p.(Glu126Asp)
+?/. 3 c.420_423del r.(?) p.(Cys140Trpfs*15)
?/. 3 c.476C>T r.(?) p.(Pro159Leu)
+?/. 3 c.476C>T r.(?) p.(Pro159Leu)
+?/. 3 c.476C>T r.(?) p.(Pro159Leu)
?/. - c.577C>T r.(?) p.(Pro193Ser)
?/. - c.617T>G r.(?) p.(Val206Gly)
+/. - c.670dup r.(?) p.(Thr224AsnfsTer12)
-?/. - c.714T>G r.(?) p.(Asn238Lys)
-/. - c.714T>G r.(?) p.(Asn238Lys)
+?/. 3 c.769dup r.(?) p.(Thr257Asnfs*10)
-?/. 3 c.787T>C r.(?) p.(Tyr263His)
+?/. 3 c.787T>C r.(?) p.(Tyr263His)
+/. - c.789C>A r.(?) p.(Tyr263Ter)
+?/. 3 c.865G>C r.(?) p.(Ala289Pro)
-/. 3 c.874C>T r.(=) p.(=)
+?/. 3 c.877C>G r.(?) p.(Gln293Glu)
+?/. - c.880T>G r.(?) p.(Tyr294Asp)
-?/. - c.893G>T r.(?) p.(Cys298Phe)
+?/. 3 c.959T>A r.(?) p.(Leu320Gln)
+?/. 3 c.959T>A r.(?) p.(Leu320Gln)
+/. 3 c.998G>A r.(?) p.(Gly333Glu)
?/. - c.1003A>G r.(?) p.(Ile335Val)
-?/. - c.1011T>C r.(?) p.(Val337=)
?/. 3 c.1037T>C r.(?) p.(Ile346Thr)
+?/. 3 c.1037T>C r.(?) p.(Ile346Thr)
+?/. - c.1055A>C r.(?) p.(Gln352Pro)
+?/. - c.1055A>C r.(?) p.(Gln352Pro)
-/. - c.1062G>C r.(?) p.(Val354=)
-/. - c.1062G>C r.(?) p.(Val354=)
-/. - c.1062G>C r.(?) p.(Val354=)
+?/. - c.1063C>T r.(?) p.(Arg355*)
+?/. - c.1063C>T r.(?) p.(Arg355*)
+/. 2 c.1063C>T c.1063C>T p.(Arg355*)
+?/. 3 c.1063C>T r.(?) p.(Arg355*)
+?/. 3 c.1063C>T r.(?) p.(Arg355*)
+?/. 3 c.1064G>A r.(?) p.(Arg355Gln)
+/. 3 c.1064G>A r.(?) p.(Arg355Gln)
+/. 3 c.1064G>A r.(?) p.(Arg355Gln)
+/. 3 c.1064G>A r.(?) p.(Arg355Gln)
+?/. 3 c.1064G>A r.(?) p.(Arg355Gln)
+?/. 3 c.1064G>A r.(?) p.(Arg355Gln)
?/. - c.1067T>G r.(?) p.(Ile356Arg)
+?/. 3 c.1082del r.(?) p.(Gly361Valfs*22)
+/. 3 c.1092del r.(?) p.(Glu365Argfs*18)
-/. - c.1103G>A r.(?) p.(Arg368His)
-/. - c.1103G>A r.(?) p.(Arg368His)
+/. 3 c.1114_1115delTT r.(?) p.(Phe372*)
+/. 3 c.1114_1115delTT r.(?) p.(Phe372*)
+/. - c.1115_1116del r.(?) p.(Phe372Ter)
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