Individual #00002936

Reference Kousi M1, Lehesjoki AE, Mole SE.(2012)
Ethnic origin Czech Republic
Remarks -
Panel size 1
Diseases NCL
Owner name Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000002936 ? ? CLN6 1 Y Yang



Variants

1 entry on 1 page. Showing entry 1.
Legend   How to query  

Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Owner     

Gene     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
15 Unknown ./. g.68503637A>G Kousi M1, Lehesjoki AE, Mole SE.(2012) CLN6_000050 - Y Yang CLN6 5 NM_017882.2:c.506T>C r.(?) p.(Leu169Pro) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution
Legend   How to query