Full data view for gene NSD1

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

2 entries on 1 page. Showing entries 1 - 2.
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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.2058T>A r.(?) p.(Tyr686*) Unknown - likely pathogenic (dominant) g.176637458T>A g.177210457T>A NM_022455.4:c.2058T>A:p.(Tyr686*) - NSD1_000400 - PubMed: Maddirevula 2018 - - De novo - - - 0 - DNA SEQ, SEQ-NG - WES skeletal dysplasia 08DG-00226 PubMed: Maddirevula 2018 isolated case F yes - Arab - 0 - - 1 LOVD
+/. - c.2058T>A r.(?) p.(Tyr686*) Parent #1 ACMG pathogenic g.176637458T>A g.177210457T>A - - NSD1_000400 ACMG PVS1, PS2 PubMed: Anazi 2017 - - De novo - - - 0 - DNA SEQ-NG - WES ID 08DG-00226 PubMed: Anazi 2017 simplex case F yes Saudi Arabia - - 0 - - 1 Johan den Dunnen
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