Variant #0000803193 (NC_000007.13:g.5568880T>C, NM_001101.3:c.275A>G (ACTB))

Chromosome 7
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.5568880T>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID ACTB_000083
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) Retrieve
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
Date created 2021-09-17 14:40:49 +02:00 (CEST)
Date last edited 2022-05-09 15:24:52 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ACTB NM_001101.3 +?/. - c.275A>G r.(?) p.(Asn92Ser)


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