Transcript #00001654

Transcript name AT rich interactive domain 2 (ARID, RFX-like)
Gene name ARID2 (AT rich interactive domain 2 (ARID, RFX-like))
Chromosome 12
Transcript - NCBI ID NM_152641.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_689854.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

23 entries on 1 page. Showing entries 1 - 23.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+/. - c.109del pathogenic r.(?) p.(Ile37Serfs*21)
+?/. - c.109_110del likely pathogenic r.(?) p.(Ile37Profs*28)
?/. 5 c.156del - r.(?) p.(Arg53Glufs*5)
+?/. - c.820C>T likely pathogenic r.(?) p.(Arg274*)
?/. - c.988_1008del VUS r.(?) p.(Leu330_Gly336del)
?/. 6 c.1028T>A - r.(?) p.(Leu343*)
?/. - c.1150G>A VUS r.(?) p.(Ala384Thr)
-/. - c.1374C>A benign r.(?) p.(=)
+?/. - c.1997_2000dup likely pathogenic r.(?) p.(Met667Ilefs*41)
?/. - c.2048G>A VUS r.(?) p.(Arg683Lys)
-?/. - c.2229T>G likely benign r.(?) p.(=)
?/. - c.2267T>C VUS r.(?) p.(Val756Ala)
+/. - c.2455C>T pathogenic r.(?) p.(Gln819*)
?/. 10 c.2536delG - r.(?) p.(Ala846Hisfs*6)
-/. - c.2764A>G benign r.(?) p.(Thr922Ala)
?/. 12 c.3411_3412del - r.(?) p.(Gly1139Serfs*20)
+?/. - c.3814C>T likely pathogenic r.(?) p.(Arg1272*)
?/. 12 c.4318C>T - r.(?) p.(Gln1440*)
?/. 12 c.4441delC - r.(?) p.(His1481Ilefs*4)
?/. - c.4585G>A VUS r.(?) p.(Gly1529Arg)
+/. - c.5006G>A pathogenic r.(?) p.(Trp1669*)
./. - c.5192A>T - r.(?) p.(Lys1731Met)
?/. - c.5363+2444G>A - - p.(=)
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