Full data view for 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.

17 entries on 1 page. Showing entries 1 - 17.
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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     

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Segregation     

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Re-site     

VIP     

Methylation     

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Technique     

Tissue     

Remarks     

Disease     

ID_report     

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Remarks     

Gender     

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Country     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.-6218G>A r.(?) p.(=) Unknown - VUS g.7480963G>A g.7577645G>A EIF4A1(NM_001416.4):c.845G>A (p.R282Q) - EIF4A1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-5521A>C r.(?) p.(=) Unknown - VUS g.7481660A>C g.7578342A>C EIF4A1(NM_001204510.1):c.1015A>C (p.(Asn339His)) - EIF4A1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-3883_-3842del r.(?) p.(=) Unknown - likely benign g.7483298_7483339del g.7579980_7580021del CD68(NM_001040059.1):c.136_177del (p.(Pro47_Gly60del)) - MPDU1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.121C>G r.(?) p.(Leu41Val) Unknown - likely benign g.7489067C>G g.7585749C>G MPDU1(NM_004870.3):c.121C>G (p.L41V) - MPDU1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.170-9T>G r.(=) p.(=) Unknown - likely benign g.7489255T>G g.7585937T>G MPDU1(NM_004870.3):c.170-9T>G - MPDU1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.218G>A r.(?) p.(Gly73Glu) Both (homozygous) - pathogenic g.7489312G>A g.7585994G>A - - MPDU1_000002 - - - - Unknown - - EarI+;HpyAV- 0 - DNA SEQ - - CDG-1F - - - ? - Israel - - 0 - - 1 Gert Matthijs
+/+ 3 c.221T>C r.(?) p.(Leu74Ser) Both (homozygous) - pathogenic g.7489315T>C g.7585997T>C - - MPDU1_000001 - - - - Unknown - - TaqI+ 0 - DNA SEQ - - CDG-1F - - - ? - Germany - - 0 - - 1 Gert Matthijs
-?/. - c.257T>C r.(?) p.(Leu86Ser) Unknown - likely benign g.7489351T>C g.7586033T>C MPDU1(NM_004870.3):c.257T>C (p.L86S) - MPDU1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.652G>T r.(?) p.(Val218Leu) Unknown - benign g.7490777G>T g.7587459G>T MPDU1(NM_004870.3):c.652G>T (p.V218L) - MPDU1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.685G>A r.(?) p.(Ala229Thr) Unknown - benign g.7490810G>A g.7587492G>A MPDU1(NM_004870.3):c.685G>A (p.A229T) - MPDU1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 7 c.*308G>T r.(=) p.(=) Both (homozygous) - likely benign g.7491177G>T g.7587859G>T - - MPDU1_000003 - PubMed: Almomani 2011 - rs4227 Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Almomani 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.*1750T>C r.(=) p.(=) Unknown - likely benign g.7492619T>C g.7589301T>C SOX15(NM_006942.1):c.376A>G (p.(Ser126Gly)) - MPDU1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4350T>C r.(=) p.(=) Unknown - likely benign g.7495219T>C g.7591901T>C FXR2(NM_004860.3):c.1951A>G (p.(Lys651Glu)) - MPDU1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4515_*4516del r.(=) p.(=) Unknown - benign g.7495384_7495385del g.7592066_7592067del FXR2(NM_004860.3):c.1927-137_1927-136delGA - FXR2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*4989G>A r.(=) p.(=) Unknown - VUS g.7495858G>A g.7592540G>A FXR2(NM_004860.3):c.1789C>T (p.(Arg597Trp)) - FXR2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*5542G>A r.(=) p.(=) Unknown - likely benign g.7496411G>A g.7593093G>A FXR2(NM_004860.3):c.1419C>T (p.P473=) - FXR2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*5970G>A r.(=) p.(=) Unknown - likely benign g.7496839G>A g.7593521G>A FXR2(NM_004860.3):c.1212C>T (p.S404=) - FXR2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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