Variant #0000001655 (NC_000005.9:g.16565897G>A, FAM134B(NM_001034850.2):c.433C>T)

Individual ID 00001655
Chromosome 5
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.16565897G>A
Reference Murphy SM, Davidson GL, Brandner S, Houlden H, Reilly MM.(2012)
DB-ID FAM134B_000001 See all 2 reported entries
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 ./. 3 c.433C>T r.(?) p.(Gln145*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001655 ? ? FAM134B 1 Y Yang