Individual #00318131

ID_report Patient 1
Reference PubMed: Nakajima et al., 2013
Remarks The patient had a sibling who was also compound heterozygous for both variants and had a similar phenotype.c.1A>G showed a decreased molecular weight ~4kD lower compared to the WT protein. The authors suggested that the translation initiation at the second ATG of the coding sequence (position c.124) would become the initiation codon, resulting in a protein change of p.Met1_Ala41del.The technique used was whole exome sequencing.
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     

Remarks     

Genes screened     

Variants found     

Owner     
0000319313 DNA SEQ;SEQ-NG - - B3GALT6 2 Raymond Dalgleish



Variants

2 entries on 1 page. Showing entries 1 - 2.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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Exon_old     

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Legacy protein change     

Protein level     
1 Parent #1 +?/+? - 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 - - - - - - - -
1 Parent #2 +?/+? - likely pathogenic g.1168352C>T - - - B3GALT6_000029 - PubMed: Nakajima et al., 2013 - - Unknown - - - 0 - Raymond Dalgleish B3GALT6 - - - - - 1 NM_080605.3:c.694C>T - r.(?) p.(Arg232Cys) - - - - - - - - - missense substitution - - - - - - - -
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