Individual #00001712

Reference Ilgaz Aydinlar E1, Rolfs A, Serteser M, Parman Y.(2014)
Ethnic origin Turkish
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     
0000001712 ? ? FAM134B 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     
5 Unknown ./. g.16478190delT Ilgaz Aydinlar E1, Rolfs A, Serteser M, Parman Y.(2014) FAM134B_000003 - Y Yang FAM134B 7 NM_001034850.2:c.826delA r.(?) p.(Ser276Valfs*8) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel
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