Variant #0000249865 (NC_000020.10:g.4680251A>G, PRNP(NM_000311.3):c.385A>G)

Chromosome 20
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.4680251A>G
DNA change (hg38) g.4699605A>G
Published as PRNP(NM_000311.4):c.385A>G (p.M129V), PRNP(NM_000311.5):c.385A>G (p.M129V)
ISCN -
DB-ID PRNP_000023 See all 23 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.30969 View details
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
PRNP NM_000311.3 -/. - c.385A>G r.(?) p.(Met129Val) -