Full data view for gene NSD1

Information The variants shown are described using the NM_022455.4 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. 23 c.6903G>C - r.(=) p.(=) Unknown g.176721272G>C g.177294271G>C - - NSD1_000053 - PubMed: Almomani 2011 - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Almomani 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. 23 c.6903G>C - r.(=) p.(=) Unknown g.176721272G>C g.177294271G>C - - NSD1_000053 - PubMed: Almomani 2011 - - Germline - - - 0 - DNA SEQ-NG - - autism, BMD/DMD, TSC - PubMed: Almomani 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
-/- 23 c.6903G>C - r.(?) p.(Gly2301Gly) Unknown g.176721272G>C g.177294271G>C - - NSD1_000053 - PubMed: Douglas 2003 - rs11740250 Germline - - - 0 - DNA CSGE - - Healthy/Control - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - 1 Martine van Belzen
-/. 23 c.6903G>C - r.(?) p.(Gly2301Gly) Unknown g.176721272G>C g.177294271G>C - - NSD1_000053 - - - rs11740251 Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Birgit Neitzel
-/. - c.6903G>C benign r.(?) p.(=) Unknown g.176721272G>C - NSD1(NM_022455.4):c.6903G>C (p.G2301=) - NSD1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.6903G>C benign r.(?) p.(=) Unknown g.176721272G>C - NSD1(NM_022455.4):c.6903G>C (p.G2301=) - NSD1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.6903G>C benign r.(?) p.(=) Unknown g.176721272G>C - NSD1(NM_022455.4):c.6903G>C (p.G2301=) - NSD1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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