Transcript #00024297 (NM_002335.3, LRP5 gene)

Transcript name LDL receptor related protein 5, transcript variant 1
Gene name LRP5 (low density lipoprotein receptor-related protein 5)
Chromosome 11
Transcript - NCBI ID NM_002335.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_002326.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

484 entries on 5 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+?/. - c.1A>T r.(?) p.(Met1?)
+/. 1 c.29G>A r.(?) p.(Trp10*)
+/. 1 c.29G>A r.(?) p.(Trp10*)
-?/. - c.51G>A r.(?) p.(Leu17=)
-/. 1 c.52_60del r.(?) p.(Leu18_Leu20del)
-?/. - c.52_60del r.(?) p.(Leu18_Leu20del)
-?/. - c.55_60del r.(?) p.(Leu19_Leu20del)
-?/. - c.58_60del r.(?) p.(Leu20del)
-?/. - c.58_60del r.(?) p.(Leu20del)
?/. - c.58_60dup r.(?) p.(Leu20dup)
-/. - c.58_60dup r.(?) p.(Leu20dup)
-/. - c.58_60dup r.(?) p.(Leu20dup)
-/. 1 c.60_61dup r.(?) p.(Ala21Glyfs*63)
+/. 1 c.85G>A r.(?) p.(Ala29Thr)
-?/. - c.91+9G>C r.(=) p.(=)
-?/. - c.91+9G>C r.(=) p.(=)
+?/. 1i c.91+10563A>T r.(=) p.(=)
+/. - c.92-2A>C r.spl p.?
?/. - c.121C>T r.(?) p.(Arg41Trp)
?/. - c.130C>T r.(?) p.(Arg44Trp)
-?/. - c.141C>T r.(?) p.(Asp47=)
-/. - c.141C>T r.(?) p.(Asp47=)
?/. - c.164C>T r.(?) p.(Ser55Phe)
-?/. - c.164C>T r.(?) p.(Ser55Phe)
+/. 2 c.209_210delinsAA r.(?) p.(Phe70*)
+?/. - c.235T>C r.(?) p.(Trp79Arg)
+?/. - c.260T>G r.(?) p.(Ile87Ser)
-?/. - c.266A>G r.(?) p.(Gln89Arg)
-/. 2 c.266A>G r.(?) p.(Gln89Arg)
-/. 2 c.266A>G r.(?) p.(Gln89Arg)
-/. 2 c.266A>G r.(?) p.(Gln89Arg)
-/. 2 c.266A>G r.(?) p.(Gln89Arg)
-?/. 2 c.266A>G r.(?) p.(Gln89Arg)
-/. - c.266A>G r.(?) p.(Gln89Arg)
-?/. - c.291C>T r.(?) p.(Ala97=)
-?/. - c.291C>T r.(?) p.(Ala97=)
-/. 2 c.324C>G r.(?) p.(=)
+/. 2 c.331G>T r.(?) p.(Asp111Tyr)
-/. 2 c.333C>T r.(?) p.(=)
-?/. - c.375G>A r.(?) p.(Thr125=)
?/. - c.394A>G r.(?) p.(Iso132Val)
?/. - c.407A>G r.(?) p.(Asn136Ser)
+/. - c.425G>A r.(?) p.(Arg142Gln)
+/. 2 c.433C>T r.(?) p.(Leu145Phe)
+/. 2 c.433C>T r.(?) p.(Leu145Phe)
+/. 2 c.433C>T r.(?) p.(Leu145Phe)
-/. - c.459G>A r.(?) p.(Pro153=)
-/. - c.459G>A r.(?) p.(Pro153=)
+/. 2 c.461G>T r.(?) p.(Arg154Met)
-/. 2i c.488+53C>T r.(?) p.(=)
-?/. - c.488+216T>G r.(=) p.(=)
+/. 3 c.511G>C r.(?) p.(Gly171Arg)
+/. 3 c.511G>T r.(?) p.(Gly171Cys)
+/. 3 c.511G>T r.(?) p.(Gly171Cys)
+?/. 3 c.518C>T r.(?) p.(Thr173Met)
+/. 3 c.518C>T r.(?) p.(Thr173Met)
+/. 3 c.607G>A r.(?) p.(Asp203Asn)
-?/. - c.612G>A r.(?) p.(Leu204=)
-?/. - c.639C>T r.(?) p.(Asp213=)
-/. 3 c.639C>T r.(?) p.(=)
+/. 3 c.640G>A r.(?) p.(Ala214Thr)
+/. 3 c.641C>T r.(?) p.(Ala214Val)
-?/. - c.675C>T r.(?) p.(Asp225=)
-/. - c.675C>T r.(?) p.(Asp225=)
?/. - c.680C>T r.(?) p.(Ser227Leu)
+?/. - c.685C>T r.(?) p.(Arg229Trp)
-/. 3i c.686+61C>T r.(?) p.(=)
-?/. - c.687-8G>A r.(=) p.(=)
-/. - c.687-8G>A r.(=) p.(=)
-?/. - c.687-8G>A r.(=) p.(=)
-/. - c.687-8G>A r.(=) p.(=)
?/. - c.713C>T r.(?) p.(Thr238Met)
-/. - c.723C>T r.(?) p.(Phe241=)
+/. 4 c.724G>A r.(?) p.(Ala242Thr)
+/. 4 c.724G>A r.(?) p.(Ala242Thr)
+/. 4 c.724G>A r.(?) p.(Ala242Thr)
+/. 4 c.724G>A r.(?) p.(Ala242Thr)
-?/. - c.729G>C r.(?) p.(Leu243=)
+?/. - c.731C>G r.(?) p.(Thr244Arg)
+/. 4 c.731C>T r.spl p.(Thr244Met)
+/. 4 c.731C>T r.(?) p.(Thr244Met)
+/. - c.748_749del r.(?) p.(Leu250Valfs*50)
?/. - c.749T>C r.(?) p.(Leu250Pro)
+/. 4 c.758C>T r.(?) p.(Thr253Ile)
+/. 4 c.758C>T r.(?) p.(Thr253Ile)
+/. 4 c.765G>A r.(?) p.(Trp255*)
+/. 4 c.765G>A r.(?) p.(Trp255*)
?/. - c.772C>T r.(?) p.(Arg258Cys)
+/. 4 c.789C>A r.(?) p.(Cys263*)
+/. 4 c.804_813del r.(?) p.(Gly269Argfs*4)
?/. - c.805G>T r.(?) p.(Gly269Trp)
+/. 4 c.844A>G r.(?) p.(Met282Val)
-/. - c.884-4T>C r.spl? p.?
-/. - c.884-4T>C r.spl? p.?
-/. - c.884-4T>C r.spl? p.?
+/. - c.889dup r.(?) p.(Thr297Asnfs*3)
+/. 5 c.920C>T r.(?) p.(Ser307Phe)
+/. 5 c.920C>T r.(?) p.(Ser307Phe)
-/. - c.963C>T r.(?) p.(Cys321=)
+/. 5 c.1000_1004dup r.(?) p.(Cys336Glyfs*50)
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