Variant #0000001862 (NC_000010.10:g.13330443T>A, PHYH(NM_006214.3):c.595A>T)

Individual ID 00001862
Chromosome 10
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.13330443T>A
Reference Jansen GA1, Waterham HR, Wanders RJ.(2004)
DB-ID PHYH_000008
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
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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.595A>T r.(?) p.(Ile199Phe) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001862 ? ? PHYH 1 Y Yang