Transcript #00025365

Transcript name transcript variant 1
Gene name LRSAM1 (leucine rich repeat and sterile alpha motif containing 1)
Chromosome 9
Transcript - NCBI ID NM_138361.5
Transcript - Ensembl ID -
Protein - NCBI ID NP_612370.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

55 entries on 1 page. Showing entries 1 - 55.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.249C>T r.(?) p.(Ile83=)
-/. - c.249C>T r.(?) p.(Ile83=)
-/. - c.252+8G>A r.(=) p.(=)
-?/. - c.253-13C>G r.(=) p.(=)
-?/. - c.268G>A r.(?) p.(Asp90Asn)
?/. - c.284C>T r.(?) p.(Ala95Val)
-?/. - c.406+15G>T r.(=) p.(=)
?/. - c.517C>T r.(?) p.(Arg173Ter)
+?/. - c.529-2A>G r.spl p.?
-/. - c.548C>T r.(?) p.(Ser183Leu)
?/. - c.586G>A r.(?) p.(Gly196Ser)
?/. - c.593C>T r.(?) p.(Ala198Val)
?/. - c.619+1G>A r.spl? p.?
-/. - c.620-15T>C r.(=) p.(=)
-?/. - c.786G>A r.(?) p.(Gln262=)
-/. - c.904-9C>T r.(=) p.(=)
-/. - c.904-9C>T r.(=) p.(=)
-/. - c.952A>G r.(?) p.(Asn318Asp)
-/. - c.952A>G r.(?) p.(Asn318Asp)
-?/. - c.965A>G r.(?) p.(Gln322Arg)
-?/. - c.965A>G r.(?) p.(Gln322Arg)
-/. - c.1044-9T>C r.(=) p.(=)
?/. - c.1199G>A r.(?) p.(Arg400Gln)
-?/. - c.1225C>G r.(?) p.(Gln409Glu)
-/. - c.1368G>A r.(?) p.(Ala456=)
+/. - c.1527G>A r.(?) p.(Trp509Ter)
?/. - c.1589G>A r.(?) p.(Arg530Gln)
-?/. - c.1632G>A r.(?) p.(Gln544=)
?/. - c.1780C>T r.(?) p.(Arg594Cys)
-/. - c.1830+6C>T r.(=) p.(=)
-/. - c.1830+6C>T r.(=) p.(=)
-?/. - c.1860C>T r.(?) p.(His620=)
-?/. - c.1860C>T r.(?) p.(His620=)
-/. - c.1912+5A>C r.spl? p.?
-/. - c.1912+5A>C r.spl? p.?
+/. - c.1913-1G>A r.1913_1914del p.Glu638Alafs*7
-?/. - c.1974T>C r.(?) p.(Ser658=)
+/. - c.2021_2024del r.(?) p.(Glu674Valfs*11)
+?/. - c.2033G>A r.(?) p.(Cys678Tyr)
+?/. - c.2038del r.(?) p.(Glu680AsnfsTer6)
+/. 24i c.2046+1G>T r.2046_2047ins[u;2046+2_2046+63] p.Glu682_Ala683ins21
-/. - c.2046+16T>C r.(=) p.(=)
+/. - c.2047-1G>A r.(?) p.?
+/. 24i c.2047-1G>A r.2047del p.Ala683Profs*3
+/. - c.2054T>G r.(?) p.(Met685Arg)
?/. - c.2054T>G r.(?) p.(Met685Arg)
?/. - c.2054T>G r.(?) p.(Met685Arg)
./. - c.2075_2087del r.(?) p.(His692Profs*39)
+/. - c.2080T>C r.(?) p.(Cys694Arg)
+/. 25 c.2081G>A r.(?) p.(Cys694Tyr)
?/. - c.2087G>C r.(?) p.(Cys696Ser)
+?/. - c.2088C>G r.(?) p.(Cys696Trp)
?/. - c.2104_2133dup r.(?) p.(Pro702_Gln711dup)
+/. - c.2121_2122dup r.(?) p.(Leu708Argfs*28)
-/. - c.2157C>T r.(?) p.(Ile719=)
Legend