Individual #00002474

Reference Sasaki R1, Takahashi MP, Kokunai Y, Hirayama M, Ibi T, Tomimoto H, Mochizuki H, Sahashi K.(2013)
Ethnic origin -
Remarks -
Panel size 1
Diseases MC
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     
0000002474 ? ? CLCN1 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     
7 Unknown ./. g.143039118T>C Sasaki R1, Takahashi MP, Kokunai Y, Hirayama M, Ibi T, Tomimoto H, Mochizuki H, Sahashi K.(2013) CLCN1_000071 - Y Yang CLCN1 15 NM_000083.2:c.1679T>C r.(?) p.(Met560Thr) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution
Legend   How to query