Variant #0000003817 (NC_000003.11:g.132193853C>A, DNAJC13(NM_015268.3):c.2369C>A)

Individual ID 00003817
Chromosome 3
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.132193853C>A
Reference Gustavsson EK1, Trinh J, Guella I, Vilari?o-Güell C, Appel-Cresswell S, Stoessl AJ, Tsui JK, McKeown M, Rajput A, Rajput AH, Aasly JO, Farrer MJ.(2015)
DB-ID DNAJC13_000004 See all 2 reported entries
Frequency -
Average frequency (gnomAD v.2.1.1) 0.00496 View details
Owner XY Liu
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by XY Liu
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
DNAJC13 NM_015268.3 ./. 22 c.2369C>A r.(?) p.(Ser790Tyr) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000003817 ? ? DNAJC13 1 Y Yang