Variant #0000866116 (NC_000019.9:g.39229246C>G, NM_004924.4:c.*9174C>G (ACTN4))

Chromosome 19
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.39229246C>G
DNA change (hg38) -
Published as CAPN12(NM_144691.4):c.772G>C (p.G258R)
ISCN -
DB-ID ACTN4_000040
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) 1.0E-5 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Date created 2022-05-09 16:01:56 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ACTN4 NM_004924.4 ?/. - c.*9174C>G r.(=) p.(=)
CAPN12 NM_144691.3 ?/. - c.772G>C r.(?) p.(Gly258Arg)


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