Full data view for gene ST3GAL3

Information The variants shown are described using the NM_174963.3 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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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     

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.-3652C>T r.(?) p.(=) Unknown - VUS g.44169743C>T g.43704072C>T KDM4A(NM_014663.2):c.3014C>T (p.(Thr1005Ile)) - KDM4A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.38C>A r.(?) p.(Ala13Asp) Both (homozygous) - pathogenic g.44201971C>A g.43736300C>A NM_006279.2:c.38C>A - ST3GAL3_000014 - PubMed: Hu 2011 - - Germline yes - - 0 - DNA SEQ-NG-I - - MRT12 21907012-FamM096 PubMed: Hu 2011 6-generation family, 8 affecteds (4F, 4M), unaffected heterozygous carrier parents F;M yes Iran - - 0 - - 8 Andreas Kuss
-?/. - c.128G>C r.(?) p.(Ser43Thr) Unknown - likely benign g.44202061G>C g.43736390G>C ST3GAL3(NM_001350619.1):c.128G>C (p.S43T), ST3GAL3(NM_174963.5):c.128G>C (p.S43T) - ST3GAL3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.128G>C r.(?) p.(Ser43Thr) Unknown - likely benign g.44202061G>C - ST3GAL3(NM_001350619.1):c.128G>C (p.S43T), ST3GAL3(NM_174963.5):c.128G>C (p.S43T) - ST3GAL3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.163+7415del r.(=) p.(=) Unknown - VUS g.44209511del g.43743840del - - ST3GAL3_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
./. - c.163+7418del r.(=) p.(=) Both (homozygous) - VUS g.44209514del g.43743843del - - ST3GAL3_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-/. - c.382A>G r.(?) p.(Thr128Ala) Unknown - benign g.44290530A>G g.43824858A>G ST3GAL3(NM_174963.5):c.382A>G (p.T128A) - ST3GAL3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.510G>T r.(?) p.(Arg170=) Unknown - VUS g.44360055G>T - ST3GAL3(NM_001350621.1):c.24G>T (p.R8S) - ST3GAL3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.551G>A r.(?) p.(Arg184His) Unknown - VUS g.44360096G>A g.43894424G>A - - ST3GAL3_000004 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - 0 - DNA SEQ-NG - - Healthy/Control S_133:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - 1 Dheeraj Bobbili
./. - c.569G>A r.(?) p.(Arg190Gln) Unknown - VUS g.44360114G>A g.43894442G>A - - ST3GAL3_000005 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs201287443 Germline - 1/567 controls - 0 - DNA SEQ-NG - - Healthy/Control S_525:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - 1 Dheeraj Bobbili
?/. - c.569G>A r.(?) p.(Arg190Gln) Unknown - VUS g.44360114G>A - ST3GAL3(NM_001350621.1):c.83G>A (p.R28Q) - ST3GAL3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.605-7T>C r.(=) p.(=) Unknown - likely benign g.44363900T>C g.43898228T>C ST3GAL3(NM_174963.5):c.605-7T>C - ST3GAL3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.825C>T r.(?) p.(Arg275=) Unknown - likely benign g.44365273C>T g.43899601C>T ST3GAL3(NM_001350621.1):c.339C>T (p.R113=), ST3GAL3(NM_174963.5):c.825C>T (p.R275=) - ST3GAL3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.825C>T r.(?) p.(Arg275=) Unknown - likely benign g.44365273C>T g.43899601C>T ST3GAL3(NM_001350621.1):c.339C>T (p.R113=), ST3GAL3(NM_174963.5):c.825C>T (p.R275=) - ST3GAL3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.825C>T r.(?) p.(Arg275=) Unknown - likely benign g.44365273C>T - ST3GAL3(NM_001350621.1):c.339C>T (p.R113=), ST3GAL3(NM_174963.5):c.825C>T (p.R275=) - ST3GAL3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.843C>T r.(?) p.(Gly281=) Unknown - likely benign g.44365291C>T - ST3GAL3(NM_001350621.1):c.357C>T (p.G119=) - ST3GAL3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.989G>A r.(?) p.(Arg330Gln) Unknown - VUS g.44386113G>A g.43920441G>A ST3GAL3(NM_001350621.1):c.503G>A (p.R168Q) - ST3GAL3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 12 c.1046C>T r.(?) p.(Ala349Val) Both (homozygous) - VUS g.44386170C>T g.43920498C>T - - ST3GAL3_000019 - 0 - rs1201878175 Germline - - - 0 - DNA SEQ-NG - TruSight One panel ? S-4228 PubMed: Ganapathy 2019 - - - India - - 0 - - 1 Johan den Dunnen
+/. 12 c.1165G>C r.(?) p.(Ala389Pro) Both (homozygous) - pathogenic g.44386520G>C g.43920848G>C 958G>C (Ala320Pro) - ST3GAL3_000013 - PubMed: Edvardson 2013 - - Germline yes - - 0 - DNA SEQ-NG-S - WES EIEE15 23252400-Fam PubMed: Edvardson 2013 4-generation family, 4 affecteds (F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Israel Palestinian - 0 - - 4 Andreas Kuss
+?/. - c.1165G>C r.(?) p.(Ala389Pro) Unknown - likely pathogenic g.44386520G>C g.43920848G>C - - ST3GAL3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1245+15A>G r.(=) p.(=) Both (homozygous) - VUS g.44386615A>G g.43920943A>G - - ST3GAL3_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-/. - c.1245+15A>G r.(=) p.(=) Unknown - benign g.44386615A>G g.43920943A>G ST3GAL3(NM_174963.5):c.1245+15A>G - ST3GAL3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1245+15A>G r.(=) p.(=) Unknown - benign g.44386615A>G g.43920943A>G ST3GAL3(NM_174963.5):c.1245+15A>G - ST3GAL3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1245+704T>C r.(=) p.(=) Unknown - VUS g.44387304T>C - ST3GAL3(NM_001350621.1):c.949T>C (p.C317R) - ST3GAL3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1246-18C>T r.(=) p.(=) Unknown - benign g.44395786C>T g.43930114C>T ST3GAL3(NM_174963.5):c.1246-18C>T - ST3GAL3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1253C>T r.(?) p.(Thr418Met) Both (homozygous) - likely pathogenic g.44395811C>T g.43930139C>T NM_001270461.1:c.704C>T - ST3GAL3_000017 - PubMed: Farajollahi 2020 - - Germline yes - - 0 - DNA SEQ-NG Blood WES ID ST3GAL3_AF4 PubMed: Farajollahi 2020 2-generation family, 4 affected, unaffected heterozygous carrier parents - yes Iran - 31y? 0 - - 4 Ehsan Razmara
./. - c.1267C>T r.(?) p.(Arg423*) Unknown - VUS g.44395825C>T g.43930153C>T - - ST3GAL3_000006 stopgain variant PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - 0 - DNA SEQ-NG - - Healthy/Control S_1:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - 1 Dheeraj Bobbili
?/. - c.1286G>A r.(?) p.(Arg429Gln) Unknown - VUS g.44395844G>A g.43930172G>A ST3GAL3(NM_001270459.1):c.989G>A (p.(Arg330Gln)) - ST3GAL3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1305C>T r.(?) p.(Arg435=) Unknown - likely benign g.44395863C>T g.43930191C>T ST3GAL3(NM_174965.3):c.502C>T (p.R168C) - ARTN_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.1315G>T r.(?) p.(Asp439Tyr) Both (homozygous) - pathogenic g.44395873G>T g.43930201G>T NM_006279.2:c.1108G>T (Asp370Tyr) - ST3GAL3_000015 - PubMed: Hu 2011 - - Germline yes - - 0 - DNA SEQ-NG-I - - MRT12 21907012-FamM319 PubMed: Hu 2011 2-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Iran - - 0 - - 4 Andreas Kuss
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