Variant #0000001869 (NC_000010.10:g.13330470_13330471insGGC, PHYH(NM_006214.3):c.567_568insGCC)

Individual ID 00001869
Chromosome 10
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.13330470_13330471insGGC
Reference Jansen GA1, Waterham HR, Wanders RJ.(2004)
DB-ID PHYH_000020
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.567_568insGCC r.(?) p.(Ile189_Val190insAla) VariO:0142 DNA insertion VariO:0020 sequence retaining amino acid insertion



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001869 ? ? PHYH 1 Y Yang