Unique variants in the MAFA gene

Information The variants shown are described using the NM_201589.3 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. 1 - c.-3928C>G r.(?) p.(=) - likely benign g.144516504G>C g.143434334G>C - - MAFA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-390C>A r.(?) p.(=) - likely benign g.144512966G>T g.143430796G>T - - MAFA_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.100G>T r.(?) p.(Glu34Ter) - pathogenic g.144512477C>A g.143430307C>A MAFA(NM_201589.3):c.100G>T (p.E34*) - MAFA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.258C>T r.(?) p.(Gly86=) - pathogenic g.144512319G>A g.143430149G>A - - MAFA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.621_623del r.(?) p.(His208del) - VUS g.144511981_144511983del g.143429811_143429813del MAFA(NM_201589.3):c.618_620del (p.?) - MAFA_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.807G>T r.(?) p.(Gln269His) - VUS g.144511770C>A g.143429600C>A MAFA(NM_201589.3):c.807G>T (p.(Gln269His)) - MAFA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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