Transcript #00020849 (NM_006593.2, TBR1 gene)

Transcript name T-box, brain, 1
Gene name TBR1 (T-box, brain, 1)
Chromosome 2
Transcript - NCBI ID NM_006593.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_006584.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -
Date created 0000-00-00 00:00:00 +00:19 (LMT)
Date last edited N/A


Variants

41 entries on 1 page. Showing entries 1 - 41.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.103C>A r.(?) p.(His35Asn)
+/. - c.196_199del r.(?) p.(Asp66IlefsTer149)
-?/. - c.498G>T r.(?) p.(Pro166=)
?/. - c.634C>A r.(?) p.(Pro212Thr)
+?/. - c.677T>A r.(?) p.(Ile226Asn)
?/. - c.678C>G r.(?) p.(Ile226Met)
+?/. - c.703C>A r.(?) p.(Pro235Thr)
?/. - c.746A>T r.(?) p.(His249Leu)
+?/. - c.811T>C r.(?) p.(Trp271Arg)
+/. - c.862dup r.(?) p.(Met288Asnfs*33)
?/. - c.864G>A r.(?) p.(Met288Ile)
+?/. - c.986C>T r.(?) p.(Ser329Phe)
-?/. - c.1063C>A r.(?) p.(Arg355Ser)
+?/. - c.1105_1113del r.(?) p.(Val369_Ala371del)
+/. 2 c.1118A>G r.(?) p.(Gln373Arg)
+?/. - c.1118A>G r.(?) p.(Gln373Arg)
+?/. - c.1128+4A>T r.spl? p.?
+?/. - c.1174C>T r.(?) p.(Arg392Trp)
+/. - c.1174C>T r.(?) p.(Arg392Trp)
+?/. 5 c.1175G>A r.(?) p.(Arg392Gln)
?/. - c.1178A>G r.(?) p.(Asp393Gly)
+?/. - c.1190+1G>A r.(?) p.(?)
+?/. - c.1190+1G>A r.spl? p.?
?/. - c.1190+5G>A r.(?) p.(?)
?/. - c.1190+5G>A r.(?) p.(?)
+?/. - c.1191-2A>G r.spl? p.?
+?/. - c.1191-2A>T r.spl? p.?
+?/. 6 c.1271del r.(?) p.(Arg424Profs*14)
?/. - c.1271G>A r.(?) p.(Arg424His)
?/. - c.1351_1356dup r.(?) p.(Ala451_Gly452dup)
?/. - c.1442C>T r.(?) p.(Pro481Leu)
+/. 6 c.1588_1594dup r.(?) p.(Thr532Argfs*144)
+?/. - c.1588_1594dup r.(?) p.(Thr532ArgfsTer144)
+?/. - c.1588_1594dup r.(?) p.(Thr532Argfs*144)
+/. - c.1588_1594dup r.(?) p.(Thr532ArgfsTer144)
-?/. - c.1618G>C r.(?) p.(Ala540Pro)
-?/. - c.1707C>T r.(?) p.(Ala569=)
?/. - c.1777C>A r.(?) p.(Arg593Ser)
?/. - c.1815G>C r.(?) p.(Lys605Asn)
?/. - c.1930G>C r.(?) p.(Asp644His)
-?/. - c.1932C>A r.(?) p.(Asp644Glu)
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