Transcript #00001816

Transcript name transcript variant 1
Gene name A2ML1 (alpha-2-macroglobulin-like 1)
Chromosome 12
Transcript - NCBI ID NM_144670.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_653271.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

138 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.9T>A likely benign r.(?) p.(=)
-?/. - c.21A>G likely benign r.(?) p.(=)
?/. - c.128T>C VUS r.(?) p.(Leu43Pro)
-?/. - c.158C>G likely benign r.(?) p.(Thr53Arg)
-/. - c.186C>T benign r.(?) p.(=)
-?/. - c.196C>T likely benign r.(?) p.(=)
-?/. - c.289C>G likely benign r.(?) p.(Arg97Gly)
-?/. - c.289C>G likely benign r.(?) p.(Arg97Gly)
-?/. - c.357G>C likely benign r.(?) p.(=)
-?/. - c.420C>A likely benign r.(?) p.(=)
-?/. - c.462+1G>C likely benign r.spl? p.?
-/. - c.463-9C>G benign r.(=) p.(=)
-?/. - c.465C>A likely benign r.(?) p.(Tyr155*)
-?/. - c.483+7G>A likely benign r.(=) p.(=)
-/. - c.483+7G>A benign r.(=) p.(=)
-/. - c.619G>C benign r.(?) p.(Gly207Arg)
-/. - c.621T>C benign r.(?) p.(=)
-?/. - c.746C>G likely benign r.(?) p.(Pro249Arg)
-?/. - c.855+9A>G likely benign r.(=) p.(=)
?/. - c.855+9A>G VUS r.(=) p.(=)
-?/. - c.861C>A likely benign r.(?) p.(Asp287Glu)
-/. - c.861C>A benign r.(?) p.(Asp287Glu)
-?/. - c.1050T>C likely benign r.(?) p.(=)
-?/. - c.1050T>C likely benign r.(?) p.(=)
-/. - c.1101T>C benign r.(?) p.(=)
-/. - c.1109T>C benign r.(?) p.(Phe370Ser)
-?/. - c.1152T>C likely benign r.(?) p.(=)
-/. - c.1215A>G benign r.(?) p.(=)
-/. - c.1275A>G benign r.(?) p.(=)
-/. - c.1275A>G benign r.(?) p.(=)
-?/. - c.1280A>G likely benign r.(?) p.(Asn427Ser)
-?/. - c.1280A>G likely benign r.(?) p.(Asn427Ser)
-?/. - c.1368C>T likely benign r.(?) p.(=)
-?/. - c.1433C>T likely benign r.(?) p.(Pro478Leu)
-?/. - c.1438G>A likely benign r.(?) p.(Asp480Asn)
-/. - c.1476+9G>A benign r.(=) p.(=)
-/. - c.1476+9G>A benign r.(=) p.(=)
-/. - c.1477-197G>T benign r.(=) p.(=)
-?/. - c.1477T>C likely benign r.(?) p.(=)
-?/. - c.1487A>G likely benign r.(?) p.(Lys496Arg)
-?/. - c.1684-10C>T likely benign r.(=) p.(=)
-/. - c.1686T>G benign r.(?) p.(=)
-?/. - c.1699T>C likely benign r.(?) p.(Ser567Pro)
-/. - c.1745A>G benign r.(?) p.(Gln582Arg)
-?/. - c.1775G>T likely benign r.(?) p.(Arg592Leu)
?/. - c.1775G>T - r.(?) p.(Arg592Leu)
?/. - c.1873del VUS r.(?) p.(Tyr625Ilefs*56)
-?/. - c.2006C>T likely benign r.(?) p.(Thr669Met)
-?/. - c.2026C>T likely benign r.(?) p.(Arg676Trp)
-?/. - c.2026C>T likely benign r.(?) p.(Arg676Trp)
-?/. - c.2027G>A likely benign r.(?) p.(Arg676Gln)
-/. - c.2029-5A>C benign r.spl? p.?
-?/. - c.2117G>A likely benign r.(?) p.(Gly706Asp)
?/. - c.2145del VUS r.(?) p.(Phe715Leufs*52)
-?/. - c.2173G>A likely benign r.(?) p.(Glu725Lys)
?/. - c.2197T>C VUS r.(?) p.(Phe733Leu)
-?/. - c.2243G>A likely benign r.(?) p.(Gly748Glu)
-?/. - c.2249A>C likely benign r.(?) p.(Glu750Ala)
-/. - c.2252C>T benign r.(?) p.(Ala751Val)
-/. - c.2295G>A benign r.(?) p.(=)
-/. - c.2367G>A benign r.(?) p.(=)
-/. - c.2367G>A benign r.(?) p.(=)
-/. - c.2367G>A benign r.(?) p.(=)
-?/. - c.2405G>A likely benign r.(?) p.(Arg802His)
+?/. - c.2405G>A - r.(?) p.(Arg802His)
?/. - c.2405G>T VUS r.(?) p.(Arg802Leu)
?/. - c.2405G>T - r.(?) p.(Arg802Leu)
?/. - c.2405G>T VUS r.(?) p.(Arg802Leu)
-?/. - c.2463+13G>C likely benign r.(=) p.(=)
-?/. - c.2464G>A likely benign r.(?) p.(Val822Ile)
-?/. - c.2486C>T likely benign r.(?) p.(Ser829Leu)
-?/. - c.2511G>C likely benign r.(?) p.(Trp837Cys)
-/. - c.2550C>A benign r.(?) p.(Asp850Glu)
-/. - c.2550C>A benign r.(?) p.(Asp850Glu)
+/. - c.2677C>T pathogenic r.(?) p.(Arg893*)
-?/. - c.2678G>A likely benign r.(?) p.(Arg893Gln)
-?/. - c.2713-8C>A likely benign r.(=) p.(=)
+/. - c.2719_2720del pathogenic r.(?) p.(Gly907Serfs*20)
-?/. - c.2721A>C likely benign r.(?) p.(=)
-?/. - c.2749T>C likely benign r.(?) p.(=)
-?/. - c.2863A>G likely benign r.(?) p.(Thr955Ala)
-/. - c.2868C>T benign r.(?) p.(=)
-?/. - c.2868C>T likely benign r.(?) p.(=)
-/. - c.2909G>A benign r.(?) p.(Cys970Tyr)
-?/. - c.2924T>C likely benign r.(?) p.(Met975Thr)
?/. - c.2924T>C VUS r.(?) p.(Met975Thr)
-?/. - c.3071G>T likely benign r.(?) p.(Ser1024Ile)
-?/. - c.3108-3dup likely benign r.spl? p.?
-/. - c.3108-3dup benign r.spl? p.?
-/. - c.3237G>A benign r.(?) p.(=)
-?/. - c.3247C>T likely benign r.(?) p.(Leu1083Phe)
-/. - c.3252C>T benign r.(?) p.(=)
-?/. - c.3252C>T likely benign r.(?) p.(=)
-?/. - c.3252C>T likely benign r.(?) p.(=)
-?/. - c.3269G>A likely benign r.(?) p.(Gly1090Asp)
-?/. - c.3269G>A likely benign r.(?) p.(Gly1090Asp)
-?/. - c.3269G>A likely benign r.(?) p.(Gly1090Asp)
-?/. - c.3272T>C likely benign r.(?) p.(Val1091Ala)
-?/. - c.3297G>A likely benign r.(?) p.(=)
?/. - c.3339T>G VUS r.(?) p.(Asp1113Glu)
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