Full data view for gene MMAA

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

19 entries on 1 page. Showing entries 1 - 19.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.92G>A r.(?) p.(Ser31Asn) Unknown - likely benign g.146560383G>A g.145639231G>A MMAA(NM_172250.3):c.92G>A (p.S31N) - MMAA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.433C>T r.(?) p.(Arg145Ter) Unknown - pathogenic g.146560724C>T g.145639572C>T MMAA(NM_172250.2):c.433C>T (p.R145*) - MMAA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.433C>T r.(?) p.(Arg145Ter) Unknown - pathogenic g.146560724C>T g.145639572C>T MMAA(NM_172250.2):c.433C>T (p.R145*) - MMAA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.433C>T r.(?) p.(Arg145*) Parent #1 - pathogenic g.146560724C>T g.145639572C>T - - MMAA_000003 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs104893851 Germline - 2/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
+/. - c.586C>T r.(?) p.(Arg196Ter) Unknown - pathogenic g.146567161C>T g.145646009C>T MMAA(NM_172250.3):c.586C>T (p.R196*) - MMAA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.593_596del r.(?) p.(Thr198Serfs*6) Paternal (confirmed) ACMG pathogenic g.146567168_146567171del g.145646016_145646019del - - MMAA_000002 - PubMed: Trujillano 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - aciduria, methylmalonic, cblA type - PubMed: Trujillano 2017 unaffected heterozygous carrier parents - - - - - 0 - - 1 Daniel Trujillano
+?/. - c.651dup r.(?) p.(Gly218Argfs*9) Maternal (confirmed) ACMG likely pathogenic g.146567226dup g.145646074dup - - MMAA_000001 - PubMed: Trujillano 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - aciduria, methylmalonic, cblA type - PubMed: Trujillano 2017 unaffected heterozygous carrier parents - - - - - 0 - - 1 Daniel Trujillano
+/. - c.742C>T r.(?) p.(Gln248Ter) Unknown - pathogenic g.146572222C>T g.145651070C>T MMAA(NM_172250.2):c.742C>T (p.Q248*) - MMAA_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.747G>A r.(?) p.(Ser249=) Unknown - benign g.146572227G>A g.145651075G>A MMAA(NM_172250.3):c.747G>A (p.S249=) - MMAA_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.747G>A r.(?) p.(Ser249=) Unknown - benign g.146572227G>A g.145651075G>A MMAA(NM_172250.3):c.747G>A (p.S249=) - MMAA_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.941G>A r.(?) p.(Arg314His) Unknown - VUS g.146575267G>A - MMAA(NM_172250.3):c.941G>A (p.R314H) - MMAA_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.966A>G r.(?) p.(Pro322=) Unknown - likely benign g.146575292A>G g.145654140A>G MMAA(NM_172250.3):c.966A>G (p.P322=) - MMAA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.988C>T r.(?) p.(Arg330*) Parent #1 - pathogenic g.146576317C>T g.145655165C>T - - MMAA_000014 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs571038432 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
?/. - c.1079G>A r.(?) p.(Arg360Gln) Unknown - VUS g.146576408G>A g.145655256G>A MMAA(NM_172250.2):c.1079G>A (p.(Arg360Gln)) - MMAA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1089G>C r.(?) p.(Gln363His) Unknown - benign g.146576418G>C g.145655266G>C MMAA(NM_172250.3):c.1089G>C (p.Q363H) - MMAA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1120A>G r.(?) p.(Ser374Gly) Unknown - VUS g.146576449A>G g.145655297A>G MMAA(NM_172250.3):c.1120A>G (p.S374G) - MMAA_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1186G>T r.(?) p.(Val396Phe) Unknown - VUS g.146576515G>T g.145655363G>T MMAA(NM_172250.2):c.1186G>T (p.(Val396Phe)) - MMAA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*2364A>G r.(=) p.(=) Parent #1 - VUS g.146578950A>G g.145657798A>G - - MMAA_000015 88 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs13129907 Germline - 88/2793 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 88 Mohammed Faruq
?/. - c.*2364A>G r.(=) p.(=) Both (homozygous) - VUS g.146578950A>G g.145657798A>G - - MMAA_000015 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs13129907 Germline - 2/2793 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
Legend   How to query