Individual #00001905

Reference Gooding R1, Colomer J, King R, Angelicheva D, Marns L, Parman Y, Chandler D, Bertranpetit J, Kalaydjieva L.(2005)
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     

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Genes screened     

Variants found     

Owner     
0000001905 ? ? SH3TC2 1 Y Yang



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

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DNA change (cDNA)     

RNA change     

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Variant/VariO/DNA     

Variant/VariO/protein     
5 Unknown ./. g.148389835G>A Gooding R1, Colomer J, King R, Angelicheva D, Marns L, Parman Y, Chandler D, Bertranpetit J, Kalaydjieva L.(2005) SH3TC2_000004 - Y Yang SH3TC2 14 NM_024577.3:c.3325C>T r.(?) p.(Arg1109*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation
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