Variant #0000326465 (NC_000019.9:g.39207742G>A, NM_004924.4:c.929G>A (ACTN4))

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.39207742G>A
DNA change (hg38) g.38717102G>A
Published as ACTN4(NM_004924.4):c.929G>A (p.(Arg310Gln)), ACTN4(NM_004924.6):c.929G>A (p.R310Q)
ISCN -
DB-ID ACTN4_000006 See all 3 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) 0.01184 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2021-09-17 14:40:49 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ACTN4 NM_004924.4 -?/. - c.929G>A r.(?) p.(Arg310Gln)
CAPN12 NM_144691.3 -?/. - c.*13750C>T r.(=) p.(=)


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