Variant #0000275466 (NC_000019.9:g.11323999C>T, NM_020812.3:c.4344G>A (DOCK6))

Chromosome 19
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.11323999C>T
DNA change (hg38) g.11213323C>T
Published as DOCK6(NM_020812.3):c.4344G>A (p.P1448=), DOCK6(NM_020812.4):c.4344G>A (p.P1448=)
ISCN -
DB-ID DOCK6_000050 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00312 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2024-04-19 20:27:30 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
C19orf80 NM_018687.6 -?/. - c.-26315C>T r.(?) p.(=)
DOCK6 NM_020812.3 -?/. - c.4344G>A r.(?) p.(Pro1448=)


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