Variant #0000002345 (NC_000023.10:g.77267171G>T, ATP7A(NM_000052.6):c.2172G>T)

Individual ID 00002345
Chromosome X
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.77267171G>T
Reference Haddad MR1, Macri CJ, Holmes CS, Goldstein DS, Jacobson BE, Centeno JA, Popek EJ, Gahl WA, Kaler SG.(2012)
DB-ID ATP7A_000118
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     
ATP7A NM_000052.6 ./. 9 c.2172G>T r.(?) p.(Gln724His) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000002345 ? ? ATP7A 1 Y Yang