All transcript variants in gene MMAA

Information The variants shown are described using the NM_172250.2 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. - c.92G>A likely benign r.(?) p.(Ser31Asn) g.146560383G>A - MMAA(NM_172250.3):c.92G>A (p.S31N) - MMAA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.433C>T pathogenic r.(?) p.(Arg145*) g.146560724C>T - MMAA(NM_172250.2):c.433C>T (p.R145*) - MMAA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.433C>T pathogenic r.(?) p.(Arg145*) g.146560724C>T - MMAA(NM_172250.2):c.433C>T (p.R145*) - MMAA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.586C>T pathogenic r.(?) p.(Arg196*) g.146567161C>T - MMAA(NM_172250.3):c.586C>T (p.R196*) - MMAA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.593_596del ACMG: 5 r.(?) p.(Thr198Serfs*6) g.146567168_146567171del g.145646016_145646019del - - MMAA_000002 - Trujillano et al., submitted - - Germline - - - 0 - Daniel Trujillano
+?/. - c.651dup ACMG: 4 r.(?) p.(Gly218Argfs*9) g.146567226dup g.145646074dup - - MMAA_000001 - Trujillano et al., submitted - - Germline - - - 0 - Daniel Trujillano
+/. - c.742C>T pathogenic r.(?) p.(Gln248*) g.146572222C>T - MMAA(NM_172250.2):c.742C>T (p.Q248*) - MMAA_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.747G>A benign r.(?) p.(=) g.146572227G>A - MMAA(NM_172250.2):c.747G>A (p.S249=), MMAA(NM_172250.3):c.747G>A (p.S249=) - MMAA_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.747G>A benign r.(?) p.(=) g.146572227G>A - MMAA(NM_172250.2):c.747G>A (p.S249=), MMAA(NM_172250.3):c.747G>A (p.S249=) - MMAA_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.966A>G likely benign r.(?) p.(=) g.146575292A>G - MMAA(NM_172250.3):c.966A>G (p.P322=) - MMAA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.1079G>A VUS r.(?) p.(Arg360Gln) g.146576408G>A - MMAA(NM_172250.2):c.1079G>A (p.(Arg360Gln)) - MMAA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.1089G>C benign r.(?) p.(Gln363His) g.146576418G>C - MMAA(NM_172250.3):c.1089G>C (p.Q363H) - MMAA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.1120A>G VUS r.(?) p.(Ser374Gly) g.146576449A>G - MMAA(NM_172250.2):c.1120A>G (p.S374G) - MMAA_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.1186G>T VUS r.(?) p.(Val396Phe) g.146576515G>T - MMAA(NM_172250.2):c.1186G>T (p.(Val396Phe)) - MMAA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
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