Variant #0000721497 (NC_000007.13:g.5568288C>A, ACTB(NM_001101.3):c.426G>T)

Chromosome 7
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.5568288C>A
DNA change (hg38) -
Published as ACTB(NM_001101.3):c.426G>T (p.L142=, p.(=))
ISCN -
DB-ID ACTB_000023 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) 0.00451 View details
Owner VKGL-NL_Nijmegen
Database submission license No license selected
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ACTB NM_001101.3 -?/. - c.426G>T r.(?) p.(Leu142=)