Full data view for gene NDST1

Information The variants shown are described using the NM_001543.4 transcript reference sequence.

22 entries on 1 page. Showing entries 1 - 22.
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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.-387-8C>T r.(=) p.(=) Unknown - likely benign g.149900422C>T - NDST1(NM_001543.5):c.-387-8C>T - NDST1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.248C>T r.(?) p.(Pro83Leu) Unknown - VUS g.149901064C>T - NDST1(NM_001543.5):c.248C>T (p.(Pro83Leu)) - NDST1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.334C>T r.(?) p.(Arg112Cys) Unknown - VUS g.149901150C>T g.150521588C>T NDST1(NM_001543.5):c.334C>T (p.(Arg112Cys), p.R112C) - NDST1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.334C>T r.(?) p.(Arg112Cys) Unknown - VUS g.149901150C>T - NDST1(NM_001543.5):c.334C>T (p.(Arg112Cys), p.R112C) - NDST1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.389G>A r.(?) p.(Arg130His) Both (homozygous) - VUS g.149901205G>A g.150521643G>A rs148227466 - NDST1_000001 - PubMed: Le Quesne Stabej 2016, Journal: Le Quesne Stabej 2016 - rs148227466 Germline - - - - - DNA SEQ, SEQ-NG - - POF8 26059840-FamPatII1/2 PubMed: Le Quesne Stabej 2016, Journal: Le Quesne Stabej 2016 two affected sisters, unaffected parents F yes (Lebanon) Lebanese - - - - 2 Polona Le Quesne Stabej
?/. - c.454C>T r.(?) p.(Arg152Trp) Unknown - VUS g.149901270C>T g.150521708C>T - - NDST1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.883G>A r.(?) p.(Val295Met) Unknown - VUS g.149907735G>A g.150528173G>A - - NDST1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.908G>A r.(?) p.(Gly303Glu) Unknown - VUS g.149907760G>A g.150528198G>A NDST1(NM_001543.4):c.908G>A (p.(Gly303Glu)) - NDST1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1008+4T>A r.spl? p.? Unknown - likely benign g.149907864T>A - NDST1(NM_001543.4):c.1008+4T>A - NDST1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1008+8C>T r.(=) p.(=) Unknown - likely benign g.149907868C>T - NDST1(NM_001543.5):c.1008+8C>T - NDST1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1253A>G r.(?) p.(Glu418Gly) Unknown - VUS g.149915263A>G g.150535701A>G NDST1(NM_001543.4):c.1253A>G (p.E418G) - NDST1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1301C>T r.(?) p.(Ser434Leu) Unknown - VUS g.149915311C>T - NDST1(NM_001543.5):c.1301C>T (p.(Ser434Leu)) - NDST1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1432A>G r.(?) p.(Ile478Val) Unknown - VUS g.149915442A>G - NDST1(NM_001543.5):c.1432A>G (p.(Ile478Val)) - NDST1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1662G>C r.(?) p.(Thr554=) Unknown - benign g.149919739G>C g.150540177G>C NDST1(NM_001543.5):c.1662G>C (p.T554=) - NDST1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1749+8dup r.(=) p.(=) Unknown - likely benign g.149919834dup g.150540272dup NDST1(NM_001543.4):c.1749+8dupG, NDST1(NM_001543.5):c.1749+8dupG - NDST1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1749+8dup r.(=) p.(=) Unknown - likely benign g.149919834dup g.150540272dup NDST1(NM_001543.4):c.1749+8dupG, NDST1(NM_001543.5):c.1749+8dupG - NDST1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1759G>A r.(?) p.(Glu587Lys) Unknown - VUS g.149921141G>A - NDST1(NM_001543.5):c.1759G>A (p.(Glu587Lys)) - NDST1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1769G>A r.(?) p.(Arg590His) Unknown - VUS g.149921151G>A g.150541589G>A NDST1(NM_001543.4):c.1769G>A (p.(Arg590His)) - NDST1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1831G>A r.(?) p.(Gly611Ser) Both (homozygous) - pathogenic (recessive) g.149921213G>A g.150541651G>A - - NDST1_000013 - PubMed: Martinez 2017, Journal: Martinez 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 1256 gene panel ID 27620904-Pat20 PubMed: Martinez 2017, Journal: Martinez 2017 - - - Spain - - - - - 1 Johan den Dunnen
+?/. - c.1831G>A r.(?) p.(Gly611Ser) Unknown - likely pathogenic g.149921213G>A - NDST1(NM_001543.4):c.1831G>A (p.G611S) - NDST1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1926G>T r.(?) p.(Glu642Asp) Both (homozygous) ACMG pathogenic (recessive) g.149922489G>T g.150542927G>T - - NDST1_000019 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ID M161 PubMed: Hu 2019 family, 2 affected individuals, first cousin parents - yes Iran Persia - - - - 2 Johan den Dunnen
?/. - c.2030G>A r.(?) p.(Ser677Asn) Unknown - VUS g.149924933G>A g.150545371G>A NDST1(NM_001543.4):c.2030G>A (p.(Ser677Asn)) - NDST1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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