Variant #0000894993 (NC_000019.9:g.40902759T>C, PRX(NM_181882.2):c.1500A>G)

Chromosome 19
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.40902759T>C
DNA change (hg38) -
Published as PRX(NM_181882.2):c.1500A>G (p.S500=), PRX(NM_181882.3):c.1500A>G (p.S500=)
ISCN -
DB-ID PRX_000030 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) 2.0E-5 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PRX NM_020956.2 -?/. - c.*1705A>G r.(=) p.(=)
PRX NM_181882.2 -?/. - c.1500A>G r.(?) p.(Ser500=)