Unique variants in gene MPDU1

Euroglycanet logoCongenital Disorders of Glycosylation (CDG)
Some variants in this database are copied from the CDG database at the Euroglycanet site.
Information The variants shown are described using the NM_004870.3 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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Effect     

Reported     

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     
?/. 1 - c.-6218G>A VUS r.(?) p.(=) g.7480963G>A - EIF4A1(NM_001416.4):c.845G>A (p.R282Q) - EIF4A1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-5521A>C VUS r.(?) p.(=) g.7481660A>C - EIF4A1(NM_001204510.1):c.1015A>C (p.(Asn339His)) - EIF4A1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-3883_-3842del likely benign r.(?) p.(=) g.7483298_7483339del - CD68(NM_001040059.1):c.136_177del (p.(Pro47_Gly60del)) - MPDU1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.170-9T>G likely benign r.(=) p.(=) g.7489255T>G - MPDU1(NM_004870.3):c.170-9T>G - MPDU1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+ 1 3 c.218G>A pathogenic r.(?) p.(Gly73Glu) g.7489312G>A - - - MPDU1_000002 - - - - Unknown - - EarI+;HpyAV- - - Gert Matthijs
+/+ 1 3 c.221T>C pathogenic r.(?) p.(Leu74Ser) g.7489315T>C - - - MPDU1_000001 - - - - Unknown - - TaqI+ - - Gert Matthijs
-?/. 1 - c.257T>C likely benign r.(?) p.(Leu86Ser) g.7489351T>C - MPDU1(NM_004870.3):c.257T>C (p.L86S) - MPDU1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.652G>T benign r.(?) p.(Val218Leu) g.7490777G>T - MPDU1(NM_004870.3):c.652G>T (p.V218L) - MPDU1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.685G>A benign r.(?) p.(Ala229Thr) g.7490810G>A - MPDU1(NM_004870.3):c.685G>A (p.A229T) - MPDU1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 7 c.*308G>T - r.(=) p.(=) g.7491177G>T g.7587859G>T - - MPDU1_000003 - PubMed: Almomani 2011 - rs4227 Germline - - - - - Gerard C.P. Schaafsma
-?/. 1 - c.*1750T>C likely benign r.(=) p.(=) g.7492619T>C - SOX15(NM_006942.1):c.376A>G (p.(Ser126Gly)) - MPDU1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*4350T>C likely benign r.(=) p.(=) g.7495219T>C - FXR2(NM_004860.3):c.1951A>G (p.(Lys651Glu)) - MPDU1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.*4515_*4516del benign r.(=) p.(=) g.7495384_7495385del - FXR2(NM_004860.3):c.1927-137_1927-136delGA - FXR2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*4989G>A VUS r.(=) p.(=) g.7495858G>A - FXR2(NM_004860.3):c.1789C>T (p.(Arg597Trp)) - FXR2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*5542G>A likely benign r.(=) p.(=) g.7496411G>A - FXR2(NM_004860.3):c.1419C>T (p.P473=) - FXR2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*5970G>A likely benign r.(=) p.(=) g.7496839G>A - FXR2(NM_004860.3):c.1212C>T (p.S404=) - FXR2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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