Variant #0000573002 (NC_000023.10:g.110406157A>G, NM_002578.3:c.483A>G (PAK3))

Chromosome X
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.110406157A>G
DNA change (hg38) g.111162929A>G
Published as PAK3(NM_001128168.2):c.591A>G (p.A197=)
ISCN -
DB-ID PAK3_000056
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) 0.00036 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 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2020-07-21 08:50:10 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PAK3 NM_001128166.1 -?/. - c.483A>G r.(?) p.(Ala161=)
PAK3 NM_002578.3 -?/. - c.483A>G r.(?) p.(Ala161=)


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