Full data view for gene NSD1

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

29 entries on 1 page. Showing entries 1 - 29.
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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     
+/. _1_23_ c.-138_*4754{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_176560833)_(176727214_?)del g.(?_177133832)_(177300213_?)del microdeletion - NSD1_000485 - PubMed: Tatton-Brown 2005, PubMed: Tatton-Brown 2017 - - De novo - - - - - DNA MLPA - - ? COG0025 PubMed: Tatton-Brown 2005, PubMed: Tatton-Brown 2017 patient - - United States - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-138_*4754{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_176560833)_(176727214_?)del g.(?_177133832)_(177300213_?)del microdeletion - NSD1_000485 - PubMed: Tatton-Brown 2005, PubMed: Tatton-Brown 2017 - - De novo - - - - - DNA MLPA - - ? COG0064 PubMed: Tatton-Brown 2005, PubMed: Tatton-Brown 2017 patient - - United States - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-138_*4754{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_176560833)_(176727214_?)del g.(?_177133832)_(177300213_?)del microdeletion - NSD1_000485 - PubMed: Tatton-Brown 2005, PubMed: Tatton-Brown 2017 - - De novo - - - - - DNA MLPA - - ? COG0070 PubMed: Tatton-Brown 2005, PubMed: Tatton-Brown 2017 patient - - United States - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-138_*4754{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_176560833)_(176727214_?)del g.(?_177133832)_(177300213_?)del microdeletion - NSD1_000485 - PubMed: Tatton-Brown 2005, PubMed: Tatton-Brown 2017 - - De novo - - - - - DNA MLPA - - ? COG0172 PubMed: Tatton-Brown 2005, PubMed: Tatton-Brown 2017 patient - - United States - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-138_*4754{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_176560833)_(176727214_?)del g.(?_177133832)_(177300213_?)del microdeletion - NSD1_000485 - PubMed: Tatton-Brown 2005, PubMed: Tatton-Brown 2017 - - De novo - - - - - DNA MLPA - - ? COG0340 PubMed: Tatton-Brown 2005, PubMed: Tatton-Brown 2017 patient - - United States - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-138_*4754{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_176560833)_(176727214_?)del g.(?_177133832)_(177300213_?)del microdeletion - NSD1_000485 - PubMed: Tatton-Brown 2005, PubMed: Tatton-Brown 2017 - - De novo - - - - - DNA MLPA - - ? COG0450 PubMed: Tatton-Brown 2005, PubMed: Tatton-Brown 2017 patient - - United States - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-138_*4754{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_176560833)_(176727214_?)del g.(?_177133832)_(177300213_?)del microdeletion - NSD1_000485 - PubMed: Tatton-Brown 2005, PubMed: Tatton-Brown 2017 - - De novo - - - - - DNA MLPA - - ? COG0512 PubMed: Tatton-Brown 2005, PubMed: Tatton-Brown 2017 patient - - United States - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-138_*4754{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_176560833)_(176727214_?)del g.(?_177133832)_(177300213_?)del microdeletion - NSD1_000485 - PubMed: Tatton-Brown 2005, PubMed: Tatton-Brown 2017 - - De novo - - - - - DNA MLPA - - ? COG0532 PubMed: Tatton-Brown 2005, PubMed: Tatton-Brown 2017 patient - - United States - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-138_*4754{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_176560833)_(176727214_?)del g.(?_177133832)_(177300213_?)del microdeletion - NSD1_000485 - PubMed: Tatton-Brown 2005, PubMed: Tatton-Brown 2017 - - De novo - - - - - DNA MLPA - - ? COG0547 PubMed: Tatton-Brown 2005, PubMed: Tatton-Brown 2017 patient - - United States - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-138_*4754{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_176560833)_(176727214_?)del g.(?_177133832)_(177300213_?)del microdeletion - NSD1_000485 - PubMed: Tatton-Brown 2017 - - De novo - - - - - DNA MLPA - - ? COG0635 PubMed: Tatton-Brown 2017 patient - - United States - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-138_*4754{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_176560833)_(176727214_?)del g.(?_177133832)_(177300213_?)del microdeletion - NSD1_000485 - PubMed: Tatton-Brown 2017 - - De novo - - - - - DNA MLPA - - ? COG0755 PubMed: Tatton-Brown 2017 patient - - United States - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-138_*4754{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_176560833)_(176727214_?)del g.(?_177133832)_(177300213_?)del microdeletion - NSD1_000485 - PubMed: Tatton-Brown 2005, PubMed: Tatton-Brown 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - ? COG0044 PubMed: Tatton-Brown 2005, PubMed: Tatton-Brown 2017 patient - - United States - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-138_*4754{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_176560833)_(176727214_?)del g.(?_177133832)_(177300213_?)del microdeletion - NSD1_000485 - PubMed: Tatton-Brown 2005, PubMed: Tatton-Brown 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - ? COG0111 PubMed: Tatton-Brown 2005, PubMed: Tatton-Brown 2017 patient - - United States - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-138_*4754{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_176560833)_(176727214_?)del g.(?_177133832)_(177300213_?)del microdeletion - NSD1_000485 - PubMed: Tatton-Brown 2005, PubMed: Tatton-Brown 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - ? COG0146 PubMed: Tatton-Brown 2005, PubMed: Tatton-Brown 2017 patient - - United States - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-138_*4754{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_176560833)_(176727214_?)del g.(?_177133832)_(177300213_?)del microdeletion - NSD1_000485 - PubMed: Tatton-Brown 2005, PubMed: Tatton-Brown 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - ? COG0160 PubMed: Tatton-Brown 2005, PubMed: Tatton-Brown 2017 patient - - United States - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-138_*4754{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_176560833)_(176727214_?)del g.(?_177133832)_(177300213_?)del microdeletion - NSD1_000485 - PubMed: Tatton-Brown 2005, PubMed: Tatton-Brown 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - ? COG0177 PubMed: Tatton-Brown 2005, PubMed: Tatton-Brown 2017 patient - - United States - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-138_*4754{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_176560833)_(176727214_?)del g.(?_177133832)_(177300213_?)del microdeletion - NSD1_000485 - PubMed: Tatton-Brown 2005, PubMed: Tatton-Brown 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - ? COG0179 PubMed: Tatton-Brown 2005, PubMed: Tatton-Brown 2017 patient - - United States - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-138_*4754{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_176560833)_(176727214_?)del g.(?_177133832)_(177300213_?)del microdeletion - NSD1_000485 - PubMed: Tatton-Brown 2005, PubMed: Tatton-Brown 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - ? COG0211 PubMed: Tatton-Brown 2005, PubMed: Tatton-Brown 2017 patient - - United States - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-138_*4754{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_176560833)_(176727214_?)del g.(?_177133832)_(177300213_?)del microdeletion - NSD1_000485 - PubMed: Tatton-Brown 2005, PubMed: Tatton-Brown 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - ? COG0218 PubMed: Tatton-Brown 2005, PubMed: Tatton-Brown 2017 patient - - United States - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-138_*4754{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_176560833)_(176727214_?)del g.(?_177133832)_(177300213_?)del microdeletion - NSD1_000485 - PubMed: Tatton-Brown 2005, PubMed: Tatton-Brown 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - ? COG0330 PubMed: Tatton-Brown 2005, PubMed: Tatton-Brown 2017 patient - - United States - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-138_*4754{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_176560833)_(176727214_?)del g.(?_177133832)_(177300213_?)del microdeletion - NSD1_000485 - PubMed: Tatton-Brown 2005, PubMed: Tatton-Brown 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - ? COG0395 PubMed: Tatton-Brown 2005, PubMed: Tatton-Brown 2017 patient - - United States - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-138_*4754{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_176560833)_(176727214_?)del g.(?_177133832)_(177300213_?)del microdeletion - NSD1_000485 - PubMed: Tatton-Brown 2005, PubMed: Tatton-Brown 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - ? COG0399 PubMed: Tatton-Brown 2005, PubMed: Tatton-Brown 2017 patient - - United States - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-138_*4754{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_176560833)_(176727214_?)del g.(?_177133832)_(177300213_?)del microdeletion - NSD1_000485 - PubMed: Tatton-Brown 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - ? COG0560 PubMed: Tatton-Brown 2017 patient - - United States - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-138_*4754{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_176560833)_(176727214_?)del g.(?_177133832)_(177300213_?)del microdeletion - NSD1_000485 - PubMed: Tatton-Brown 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - ? COG0580 PubMed: Tatton-Brown 2017 patient - - United States - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-138_*4754{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_176560833)_(176727214_?)del g.(?_177133832)_(177300213_?)del microdeletion - NSD1_000485 - PubMed: Tatton-Brown 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - ? COG0588 PubMed: Tatton-Brown 2017 patient - - United States - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-138_*4754{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_176560833)_(176727214_?)del g.(?_177133832)_(177300213_?)del microdeletion - NSD1_000485 - PubMed: Tatton-Brown 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - ? COG0651 PubMed: Tatton-Brown 2017 patient - - United States - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-138_*4754{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_176560833)_(176727214_?)del g.(?_177133832)_(177300213_?)del microdeletion - NSD1_000485 - PubMed: Tatton-Brown 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - ? COG0654 PubMed: Tatton-Brown 2017 patient - - United States - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-138_*4754{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_176560833)_(176727214_?)del g.(?_177133832)_(177300213_?)del microdeletion - NSD1_000485 - PubMed: Tatton-Brown 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - ? COG0714 PubMed: Tatton-Brown 2017 patient - - United States - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-138_*4754{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_176560833)_(176727214_?)del g.(?_177133832)_(177300213_?)del microdeletion - NSD1_000485 - PubMed: Tatton-Brown 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - ? COG0811 PubMed: Tatton-Brown 2017 patient - - United States - - - - - 1 Johan den Dunnen
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