Variant #0000623679 (NC_000017.10:g.41102652C>T, PTGES3L-AARSD1(NM_025267.3):c.1536G>A)

Chromosome 17
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.41102652C>T
DNA change (hg38) g.42950635C>T
Published as AARSD1(NM_001261434.2):c.1197G>A (p.A399=), PTGES3L-AARSD1(NM_001136042.2):c.1719G>A (p.A573=)
ISCN -
DB-ID AARSD1_000010
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) 0.00016 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PTGES3L NM_001142653.1 -?/. - c.*18513G>A r.(=) p.(=)
AARSD1 NM_001261434.1 -?/. - c.1197G>A r.(?) p.(Ala399=)
PTGES3L-AARSD1 NM_025267.3 -?/. - c.1536G>A r.(?) p.(Ala512=)