Individual #00001869

Reference Jansen GA1, Waterham HR, Wanders RJ.(2004)
Ethnic origin -
Remarks -
Panel size 1
Diseases HMSN
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     
0000001869 ? ? PHYH 1 Y Yang



Variants

1 entry on 1 page. Showing entry 1.
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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     
10 Unknown ./. g.13330470_13330471insGGC Jansen GA1, Waterham HR, Wanders RJ.(2004) PHYH_000020 - Y Yang PHYH 6 NM_006214.3:c.567_568insGCC r.(?) p.(Ile189_Val190insAla) VariO:0142 DNA insertion VariO:0020 sequence retaining amino acid insertion
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