Full data view for gene BRAT1

Information The variants shown are described using the NM_152743.3 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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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.638dup r.(?) p.(Val214GlyfsTer189) Unknown - pathogenic g.2583390dup g.2543756dup BRAT1(NM_001350626.1):c.638dupA (p.V214Gfs*189), BRAT1(NM_152743.3):c.638dupA (p.V214Gfs*189), BRAT1(NM_152743.4):c.638dupA (p.V214Gfs*189) - BRAT1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.638dup r.(?) p.(Val214GlyfsTer189) Unknown - pathogenic g.2583390dup g.2543756dup BRAT1(NM_001350626.1):c.638dupA (p.V214Gfs*189), BRAT1(NM_152743.3):c.638dupA (p.V214Gfs*189), BRAT1(NM_152743.4):c.638dupA (p.V214Gfs*189) - BRAT1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.638dup r.(?) p.(Val214GlyfsTer189) Unknown - likely pathogenic g.2583390dup - BRAT1(NM_001350626.1):c.638dupA (p.V214Gfs*189), BRAT1(NM_152743.3):c.638dupA (p.V214Gfs*189), BRAT1(NM_152743.4):c.638dupA (p.V214Gfs*189) - BRAT1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.638dup r.(?) p.(Val214Glyfs*189) Paternal (confirmed) - pathogenic g.2583390dup - 638dupA - BRAT1_000010 - - - - Germline yes - - 0 - DNA SEQ-NG-I blood - ? - - - F no Italy - - 0 - - 1 Sara Nuovo
+?/. - c.638dup r.(?) p.(Val214GlyfsTer189) Parent #1 - likely pathogenic g.2583390dup g.2543756dup 638_639insA - BRAT1_000010 - PubMed: Srivastava 2014 - - Germline - - - 0 - DNA SEQ-NG - WES ? Pat29 PubMed: Srivastava 2014 family, several affected - - United States - - 0 - - 2 Johan den Dunnen
+/. - c.638dup r.(?) p.(Val214GlyfsTer189) Unknown - pathogenic g.2583390dup - BRAT1(NM_001350626.1):c.638dupA (p.V214Gfs*189), BRAT1(NM_152743.3):c.638dupA (p.V214Gfs*189), BRAT1(NM_152743.4):c.638dupA (p.V214Gfs*189) - BRAT1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.638_639insA r.(?) p.(Val214GlyfsTer189) Both (homozygous) - likely pathogenic g.2583390dup g.2543756dup BRAT1 c.638_639insA - BRAT1_000010 homozygous PubMed: Puffenberger 2012 - - Germline yes population-specific allele frequency: 0.50% (2/402) - 0 - DNA arraySNP, SEQ-NG, SEQ blood targeted gene analysis or a next-generation sequencing-based gene panel RMFSL 2 PubMed: Puffenberger 2012 no patient number in publication, consecutive numbers given ? - - Old Order Amish and Mennonite - 0 - - 1 LOVD
+?/. - c.638_639insA r.(?) p.(Val214GlyfsTer189) Both (homozygous) - likely pathogenic g.2583390dup g.2543756dup BRAT1 c.638_639insA - BRAT1_000010 homozygous PubMed: Puffenberger 2012 - - Germline yes population-specific allele frequency: 0.50% (2/402) - 0 - DNA arraySNP, SEQ-NG, SEQ blood targeted gene analysis or a next-generation sequencing-based gene panel RMFSL 3 PubMed: Puffenberger 2012 no patient number in publication, consecutive numbers given ? - - Old Order Amish and Mennonite - 0 - - 1 LOVD
+?/. - c.638_639insA r.(?) p.(Val214GlyfsTer189) Both (homozygous) - likely pathogenic g.2583390dup g.2543756dup BRAT1 c.638_639insA - BRAT1_000010 homozygous PubMed: Puffenberger 2012 - - Germline yes population-specific allele frequency: 0.50% (2/402) - 0 - DNA arraySNP, SEQ-NG, SEQ blood targeted gene analysis or a next-generation sequencing-based gene panel RMFSL 4 PubMed: Puffenberger 2012 no patient number in publication, consecutive numbers given ? - - Old Order Amish and Mennonite - 0 - - 1 LOVD
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