Variant #0000001878 (NC_000010.10:g.13325694C>T, PHYH(NM_006214.3):c.824G>A)

Individual ID 00001878
Chromosome 10
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.13325694C>T
Reference Jansen GA1, Hogenhout EM, Ferdinandusse S, Waterham HR, Ofman R, Jakobs C, Skjeldal OH, Wanders RJ.(2000)
DB-ID PHYH_000013 See all 2 reported entries
Frequency -
Average frequency (gnomAD v.2.1.1) 3.0E-5 View details
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 ./. 7 c.824G>A r.(?) p.(Arg275Gln) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001878 ? ? PHYH 1 Y Yang