Individual #00001655

Reference Murphy SM, Davidson GL, Brandner S, Houlden H, Reilly MM.(2012)
Ethnic origin -
Remarks -
Panel size 1
Diseases HSAN
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     
0000001655 ? ? FAM134B 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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DB-ID     

Frequency     

Owner     

Gene     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
5 Unknown ./. g.16565897G>A Murphy SM, Davidson GL, Brandner S, Houlden H, Reilly MM.(2012) FAM134B_000001 - Y Yang FAM134B 3 NM_001034850.2:c.433C>T r.(?) p.(Gln145*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation
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