Variant #0000306521 (NC_000019.9:g.40909664G>C, PRX(NM_181882.2):c.133C>G)

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.40909664G>C
DNA change (hg38) g.40403757G>C
Published as PRX(NM_020956.2):c.133C>G (p.R45G)
ISCN -
DB-ID PRX_000045 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) 0.00146 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PRX NM_020956.2 -/. - c.133C>G r.(?) p.(Arg45Gly)
PRX NM_181882.2 -/. - c.133C>G r.(?) p.(Arg45Gly)