Variant #0000003831 (NC_000003.11:g.132247160T>G, DNAJC13(NM_015268.3):c.6509T>G)

Individual ID 00003831
Chromosome 3
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.132247160T>G
Reference Petersen MS1, Guella I2, Bech S3, Gustavsson E4, Farrer MJ5.(2015)
DB-ID DNAJC13_000014 See all 2 reported entries
Frequency -
Average frequency (gnomAD v.2.1.1) 0.00235 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 ./. 54 c.6509T>G r.(?) p.(Leu2170Trp) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000003831 ? ? DNAJC13 1 Y Yang