Gene Mutations
 
Records Return:  (19) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
ADA60895810270020q13.11ALA215THR0015ADA DEFICIENCY, PARTIAL2
ADA60895810270020q13.11ALA329VAL0006SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY4
ADA60895810270020q13.11ARG101GLN0003SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY2
ADA60895810270020q13.11ARG101TRP0002SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY2
ADA60895810270020q13.11ARG149GLN0011ADA DEFICIENCY, PARTIAL1
ADA60895810270020q13.11ARG156CYS0018SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY2
ADA60895810270020q13.11ARG156HIS0032SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY1
ADA60895810270020q13.11ARG211CYS0014ADA DEFICIENCY, PARTIAL2
ADA60895810270020q13.11ARG211HIS0004SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY4
ADA60895810270020q13.11ARG76TRP0010ADA DEFICIENCY, PARTIAL5
ADA60895810270020q13.11GLY216ARG0016SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY7
ADA60895810270020q13.11IVS1DS, G>C, +10024SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY2
ADA60895810270020q13.11IVS3AS, A>G, -2, EX4DEL0017SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY2
ADA60895810270020q13.11LEU107PRO0013SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY4
ADA60895810270020q13.11LEU304ARG0005SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY2
ADA60895810270020q13.11PRO274LEU0012ADA DEFICIENCY, PARTIAL1
ADA60895810270020q13.11PRO297GLN0009ADA DEFICIENCY, PARTIAL2
ADA60895810270020q13.11SER291LEU0019SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY1
ADA60895810270020q13.11THR233ILE0028ADA DEFICIENCY, PARTIAL2