Variant #0000794235 (NC_000010.10:g.102509554C>G, PAX2(NM_003990.3):c.95C>G)

Individual ID 00379776
Chromosome 10
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.102509554C>G
DNA change (hg38) -
Published as -
ISCN -
DB-ID PAX2_000165
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Jinu Han
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Jinu Han
Date created 2021-08-09 09:05:41 +02:00 (CEST)
Date last edited 2021-08-11 14:37:22 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PAX2 NM_003990.3 +?/. - c.95C>G r.(?) p.(Pro32Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000380975 DNA SEQ-NG-I - - - 1 Jinu Han