Variant #0000444302 (NC_000004.11:g.3475166C>T, NM_173660.4:c.134C>T (DOK7))

Individual ID 00211406
Chromosome 4
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.3475166C>T
DNA change (hg38) g.3473439C>T
Published as -
ISCN -
DB-ID DOK7_000026 See all 8 reported entries
Variant remarks -
Reference PubMed: Cossins 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00547 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2012-07-08 11:53:08 +02:00 (CEST)
Date last edited 2013-03-07 20:26:17 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DOK7 NM_173660.4 -?/. 3 c.134C>T r.(?) p.(Ser45Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000212482 DNA SEQ - - DOK7 1 Johan den Dunnen


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