Transcript #00001151

Transcript name transcript variant 2
Gene name A2LD1 (AIG2-like domain 1)
Chromosome 13
Transcript - NCBI ID NM_001195087.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001182016.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

44 entries on 1 page. Showing entries 1 - 44.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. - c.-10-7214del - - p.(=)
-?/. - c.*1979G>A likely benign r.(=) p.(=)
-?/. - c.*1979G>A likely benign r.(=) p.(=)
-?/. - c.*16586C>G likely benign r.(=) p.(=)
-?/. - c.*16608C>T likely benign r.(=) p.(=)
+/. - c.*16704C>T pathogenic r.(=) p.(=)
?/. - c.*82828T>C VUS r.(=) p.(=)
-?/. - c.*82828T>C likely benign r.(=) p.(=)
-?/. - c.*82874A>G likely benign r.(=) p.(=)
-/. - c.*82887C>A benign r.(=) p.(=)
-/. - c.*163651C>A benign r.(=) p.(=)
?/. - c.*201489G>A VUS r.(=) p.(=)
+/. - c.*201543G>A pathogenic r.(=) p.(=)
-?/. - c.*222215T>C likely benign r.(=) p.(=)
-/. - c.*222215T>C benign r.(=) p.(=)
-?/. - c.*222228T>C likely benign r.(=) p.(=)
-?/. - c.*222228T>C likely benign r.(=) p.(=)
-/. - c.*222228T>C benign r.(=) p.(=)
-?/. - c.*224852T>C likely benign r.(=) p.(=)
?/. - c.*224934C>T VUS r.(=) p.(=)
?/. - c.*224934C>T VUS r.(=) p.(=)
-/. - c.*229116C>T benign r.(=) p.(=)
-?/. - c.*229159C>T likely benign r.(=) p.(=)
-?/. - c.*229180T>C likely benign r.(=) p.(=)
-?/. - c.*230522T>C likely benign r.(=) p.(=)
-?/. - c.*230582T>C likely benign r.(=) p.(=)
-?/. - c.*258779G>A likely benign r.(=) p.(=)
-?/. - c.*258920G>C likely benign r.(=) p.(=)
+/. - c.*258932dup pathogenic r.(?) p.(=)
+/. - c.*258932dup pathogenic r.(?) p.(=)
-/. - c.*263328T>C benign r.(=) p.(=)
-/. - c.*263328T>C benign r.(=) p.(=)
-/. - c.*263328T>C benign r.(=) p.(=)
-?/. - c.*263391G>A likely benign r.(=) p.(=)
-?/. - c.*269326A>C likely benign r.(=) p.(=)
+?/. - c.*269336T>C likely pathogenic r.(=) p.(=)
-/. - c.*296262T>C benign r.(=) p.(=)
-/. - c.*296262T>C benign r.(=) p.(=)
-?/. - c.*420197_*420200del likely benign r.(=) p.(=)
-?/. - c.*420271C>T likely benign r.(=) p.(=)
-/. - c.*420308_*420309del benign r.(=) p.(=)
-/. - c.*420308_*420309del benign r.(=) p.(=)
-/. - c.*420308_*420309del benign r.(=) p.(=)
-?/. - c.*442968G>A likely benign r.(=) p.(=)
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