Variant #0000001879 (NC_000010.10:g.13330461_13330462insGGC, PHYH(NM_006214.3):c.576_577insGCC)

Individual ID 00001879
Chromosome 10
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.13330461_13330462insGGC
Reference Jansen GA1, Hogenhout EM, Ferdinandusse S, Waterham HR, Ofman R, Jakobs C, Skjeldal OH, Wanders RJ.(2000)
DB-ID PHYH_000023
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     
PHYH NM_006214.3 ./. 6 c.576_577insGCC r.(?) p.(Ala192dup) VariO:0142 DNA insertion VariO:0020 sequence retaining amino acid insertion



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001879 ? ? PHYH 1 Y Yang