Individual #00318133

ID_report P4
Reference PubMed: Nakajima et al., 2013
Remarks The authors predicted the c.1A>G variant would result in a 41aa deletion due to the second ATG being the initiation codon.
Gender -
Consanguinity -
Country Japan
Population Japanese
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases SEMDJL1
Owner name Raymond Dalgleish
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Raymond Dalgleish


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

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Genes screened     

Variants found     

Owner     
0000319315 DNA SEQ - - B3GALT6 1 Raymond Dalgleish



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

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Exon     

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P-domain     

Exon_old     

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Predicted     

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CpG     

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mRNA level     

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Legacy protein change     

Protein level     
1 Unknown +?/+? - likely pathogenic g.1167659A>G - - - B3GALT6_000028 - PubMed: Nakajima et al., 2013 - - Unknown - - - 0 - Raymond Dalgleish B3GALT6 - - - - - 1 NM_080605.3:c.1A>G - r.(?) p.0? - - - - - - - - - initiating methionine substitution - - - - - - - -
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