Variant #0000001144 (NC_000019.9:g.42472989C>T, ATP1A3(NM_152296.4):c.2767G>A)

Individual ID 00001144
Chromosome 19
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.42472989C>T
Reference Roubergue A1, Philibert B, Gautier A, Kuster A, Markowicz K, de Villemeur TB, Vuillaumier-Barrot S, Nicole S, Roze E, Doummar D.(2014)
DB-ID ATP1A3_000007 See all 2 reported entries
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     
ATP1A3 NM_152296.4 ./. 20 c.2767G>A r.(?) p.(Asp923Asn) 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     
0000001144 ? ? ATP1A3 1 Y Yang