Variant #0000001712 (NC_000005.9:g.16478190delT, FAM134B(NM_001034850.2):c.826delA)

Individual ID 00001712
Chromosome 5
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.16478190delT
Reference Ilgaz Aydinlar E1, Rolfs A, Serteser M, Parman Y.(2014)
DB-ID FAM134B_000003
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
FAM134B NM_001034850.2 ./. 7 c.826delA r.(?) p.(Ser276Valfs*8) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001712 ? ? FAM134B 1 Y Yang