Transcript #00018684

Transcript name serine active site containing 1
Gene name SERAC1 (serine active site containing 1)
Chromosome 6
Transcript - NCBI ID NM_032861.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_116250.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

56 entries on 1 page. Showing entries 1 - 56.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/? - c.-4821557_*1877933del - r.0? p.0?
-?/. - c.-2+10G>A likely benign r.(=) p.(=)
-?/. - c.-1-10A>G likely benign r.(=) p.(=)
?/. - c.29G>C VUS r.(?) p.(Cys10Ser)
-?/. - c.62C>T likely benign r.(?) p.(Pro21Leu)
-/. - c.62C>T benign r.(?) p.(Pro21Leu)
-?/. - c.89T>C likely benign r.(?) p.(Ile30Thr)
?/. - c.101_103del VUS r.(?) p.(Ile34del)
?/. - c.128+8_128+10del VUS r.(=) p.(=)
?/. - c.139T>A VUS r.(?) p.(Phe47Ile)
+/. - c.202C>T pathogenic r.(?) p.(Arg68*)
-/. - c.249C>T benign r.(?) p.(=)
-/. - c.249C>T benign r.(?) p.(=)
-?/. - c.341G>A likely benign r.(?) p.(Arg114Gln)
-/. - c.355+11A>G benign r.(=) p.(=)
-/. - c.355+11A>G benign r.(=) p.(=)
?/. - c.364A>G VUS r.(?) p.(Ser122Gly)
+/. - c.438del ACMG: 5 r.(?) p.(Thr147Argfs*22)
+/. 6 c.442C>T - r.(?) p.(Arg148*)
+/. 6 c.442C>T - r.(?) p.(Arg148*)
+/. 6 c.442C>T - r.(?) p.(Arg148*)
?/. - c.457C>T VUS r.(?) p.(Arg153Trp)
+/. 6 c.466_467insGCGGGAAATGT - r.(?) p.(Ser156Cysfs*17)
+/. - c.547C>T pathogenic r.(?) p.(Arg183*)
+/. 7 c.576delT - r.(?) p.(Leu193Serfs*9)
?/. - c.583C>T VUS r.(?) p.(Pro195Ser)
+/. - c.916C>T pathogenic r.(?) p.(Arg306*)
-?/. - c.917G>A likely benign r.(?) p.(Arg306Gln)
-/. - c.1016-11C>T benign r.(=) p.(=)
-?/. - c.1084A>T likely benign r.(?) p.(Ile362Phe)
+/. - c.1112_1113del pathogenic r.(?) p.(Val371Alafs*22)
+/. 12 c.1167_1170del - r.1167_1308del p.Ser389Argfs*4
+/. 12 c.1202G>A - r.(?) p.(Gly401Asp)
+/. 12 c.1211G>A - r.(?) p.(Gly404Glu)
?/. - c.1295C>T VUS r.(?) p.(Thr432Met)
+/. 13 c.1309_1313dup - r.(?) p.(Trp438*)
-?/. - c.1396A>T likely benign r.(?) p.(Met466Leu)
+/. 13i c.1403+1G>C - r.1309_1403del p.Thr437Lysfs*12
+/. 13i c.1403+1G>C - r.1309_1403del p.Thr437Lysfs*12
+/. 14 c.1435_1437del - r.(?) p.(Leu479del)
+/. - c.1488dup - r.(?) p.(His497Thrfs*2)
+/. 14 c.1493G>C - r.(?) p.(Ser498Thr)
+/. 14 c.1493G>C - r.(?) p.(Ser498Thr)
?/. - c.1501+3A>C VUS r.spl? p.?
+/. 15 c.1598_1599dup - r.(?) p.(His534Leufs*53)
+/. 15 c.1627_1628dup - r.(?) p.(Val544Leufs*43)
+/. - c.1628_1629dup pathogenic r.(?) p.(Val544Leufs*43)
?/. - c.1688C>G VUS r.(?) p.(Ser563Cys)
?/. - c.1765G>A VUS r.(?) p.(Glu589Lys)
+?/. - c.1765G>A likely pathogenic r.(?) p.(Glu589Lys)
?/. - c.1816G>A VUS r.(?) p.(Val606Met)
+/. 16_16i c.1822_1828+10delinsACCAACAGG - r.? p.?
+/. 16_16i c.1822_1828+10delinsACCAACAGG - r.? p.?
+/. 16_16i c.1822_1828+10delinsACCAACAGG - r.1822_1828+10delinsACCAACAGGins1828+11_1829-1 p.?
+/. 17 c.1924C>T - r.(?) p.(Gln642*)
?/. - c.1933C>T VUS r.(?) p.(Arg645Cys)
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