Variant #0000568000 (NC_000019.9:g.50086887C>T, NM_000951.2:c.174C>T (PRRG2))

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.50086887C>T
DNA change (hg38) g.49583630C>T
Published as PRRG2(NM_001316335.1):c.105C>T (p.L35=)
ISCN -
DB-ID NOSIP_000002
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) 0.00033 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2020-07-16 10:43:46 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PRRG2 NM_000951.2 -?/. - c.174C>T r.(?) p.(Leu58=)
NOSIP NM_001270960.1 -?/. - c.-3117G>A r.(?) p.(=)


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