Full data view for gene GALNT3

Information The variants shown are described using the NM_004482.3 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

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Remarks     

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VIP     

Data_av     

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Panel size     

Owner     
./. - c.-458138_*1026870del r.0? p.0? Unknown - pathogenic g.165578421_167108554del - - - COBLL1_000312 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
-?/. - c.407A>G r.(?) p.(Glu136Gly) Unknown - likely benign g.166626804T>C - GALNT3(NM_004482.3):c.407A>G (p.(Glu136Gly)) - GALNT3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.504T>C r.(?) p.(Thr168=) Unknown - likely benign g.166626707A>G g.165770197A>G GALNT3(NM_004482.3):c.504T>C (p.T168=) - GALNT3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.799G>T r.(?) p.(Val267Phe) Unknown - likely benign g.166618454C>A - GALNT3(NM_004482.3):c.799G>T (p.(Val267Phe)) - GALNT3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.838+153G>A r.(=) p.(=) Unknown - benign g.166618262C>T g.165761752C>T GALNT3(NM_004482.4):c.838+153G>A - GALNT3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1110A>G r.(?) p.(Ser370=) Unknown - likely benign g.166615338T>C g.165758828T>C GALNT3(NM_004482.3):c.1110A>G (p.S370=) - GALNT3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1112A>G r.(?) p.(Lys371Arg) Unknown - likely benign g.166615336T>C - GALNT3(NM_004482.3):c.1112A>G (p.K371R) - GALNT3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1320A>G r.(?) p.(Ala440=) Unknown - likely benign g.166613629T>C - GALNT3(NM_004482.3):c.1320A>G (p.A440=) - GALNT3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1417A>G r.(?) p.(Arg473Gly) Unknown - VUS g.166611549T>C g.165755039T>C GALNT3(NM_004482.3):c.1417A>G (p.(Arg473Gly)) - GALNT3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1567A>G r.(?) p.(Asn523Asp) Unknown - likely benign g.166611196T>C - GALNT3(NM_004482.3):c.1567A>G (p.N523D) - GALNT3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1626+164del r.(=) p.(=) Unknown - benign g.166610981del g.165754471del GALNT3(NM_004482.4):c.1626+164delT - GALNT3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1705G>A r.(?) p.(Val569Ile) Unknown - likely benign g.166606326C>T - GALNT3(NM_004482.3):c.1705G>A (p.(Val569Ile)) - GALNT3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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