Variant #0000013670 (NC_000017.10:g.41106085T>C, PTGES3L-AARSD1(NM_025267.3):c.1293-290A>G)

Individual ID 00000209
Chromosome 17
Allele Both (homozygous)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.41106085T>C
DNA change (hg38) g.42954068T>C
Published as -
ISCN -
DB-ID AARSD1_000003 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Yu Sun
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Ivo F.A.C. Fokkema
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AARSD1 NM_001261434.1 ./. - c.954-290A>G r.(=) p.(=)
PTGES3L-AARSD1 NM_025267.3 ./. - c.1293-290A>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000210 DNA SEQ-NG-I - - - 6404 Yu Sun