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

43 entries on 1 page. Showing entries 1 - 43.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.249C>T benign r.(?) p.(=)
-/. - c.249C>T benign r.(?) p.(=)
-/. - c.252+8G>A benign r.(=) p.(=)
-?/. - c.253-13C>G likely benign r.(=) p.(=)
?/. - c.284C>T VUS r.(?) p.(Ala95Val)
?/. - c.517C>T VUS r.(?) p.(Arg173*)
+?/. - c.529-2A>G likely pathogenic r.spl p.?
-/. - c.548C>T benign r.(?) p.(Ser183Leu)
?/. - c.586G>A VUS r.(?) p.(Gly196Ser)
?/. - c.593C>T VUS r.(?) p.(Ala198Val)
?/. - c.619+1G>A VUS r.spl? p.?
-/. - c.620-15T>C benign r.(=) p.(=)
-?/. - c.786G>A likely benign r.(?) p.(=)
-/. - c.904-9C>T benign r.(=) p.(=)
-/. - c.904-9C>T benign r.(=) p.(=)
-/. - c.952A>G benign r.(?) p.(Asn318Asp)
-/. - c.952A>G benign r.(?) p.(Asn318Asp)
-?/. - c.965A>G likely benign r.(?) p.(Gln322Arg)
-?/. - c.965A>G likely benign r.(?) p.(Gln322Arg)
?/. - c.1199G>A VUS r.(?) p.(Arg400Gln)
-?/. - c.1225C>G likely benign r.(?) p.(Gln409Glu)
-/. - c.1368G>A benign r.(?) p.(=)
+/. - c.1527G>A pathogenic r.(?) p.(Trp509*)
-?/. - c.1632G>A likely benign r.(?) p.(=)
-/. - c.1830+6C>T benign r.(=) p.(=)
-/. - c.1830+6C>T benign r.(=) p.(=)
-/. - c.1912+5A>C benign r.spl? p.?
-/. - c.1912+5A>C benign r.spl? p.?
+/. - c.1913-1G>A pathogenic (recessive) r.1913_1914del p.Glu638Alafs*7
+/. - c.2021_2024del pathogenic (dominant) r.(?) p.(Glu674Valfs*11)
+?/. - c.2033G>A likely pathogenic r.(?) p.(Cys678Tyr)
+/. 24i c.2046+1G>T pathogenic (dominant) r.2046_2047ins[u;2046+2_2046+63] p.Glu682_Ala683ins21
-/. - c.2046+16T>C benign r.(=) p.(=)
+/. - c.2047-1G>A pathogenic r.(?) p.?
+/. 24i c.2047-1G>A pathogenic (dominant) r.2047del p.Ala683Profs*3
?/. - c.2054T>G VUS r.(?) p.(Met685Arg)
?/. - c.2054T>G VUS r.(?) p.(Met685Arg)
./. - c.2075_2087del - r.(?) p.(His692Profs*39)
+/. - c.2080T>C pathogenic (dominant) r.(?) p.(Cys694Arg)
+/. 25 c.2081G>A pathogenic (dominant) r.(?) p.(Cys694Tyr)
?/. - c.2087G>C VUS r.(?) p.(Cys696Ser)
+/. - c.2121_2122dup pathogenic (dominant) r.(?) p.(Leu708Argfs*28)
-/. - c.2157C>T benign r.(?) p.(=)
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