Variant #0000690596 (NC_000009.11:g.80919852T>C, NM_021154.3:c.393T>C (PSAT1))

Chromosome 9
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.80919852T>C
DNA change (hg38) -
Published as PSAT1(NM_058179.3):c.393T>C (p.Y131=)
ISCN -
DB-ID PSAT1_000020
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) 0.00021 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 2020-09-15 15:50:26 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PSAT1 NM_021154.3 -?/. - c.393T>C r.(?) p.(Tyr131=)


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