Variant #0000260531 (NC_000019.9:g.39217592C>T, NC_000019.9(NM_004924.4):c.2191-5C>T (ACTN4))

Chromosome 19
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.39217592C>T
DNA change (hg38) g.38726952C>T
Published as ACTN4(NM_004924.4):c.2191-5C>T (p.?), ACTN4(NM_004924.6):c.2191-5C>T
ISCN -
DB-ID ACTN4_000007 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) 0.0032 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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.2191-5C>T r.spl? p.?
CAPN12 NM_144691.3 -/. - c.*3900G>A r.(=) p.(=)


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