Variant #0000659765 (NC_000009.11:g.80921295G>C, NM_021154.3:c.463G>C (PSAT1))

Individual ID 00295972
Chromosome 9
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.80921295G>C
DNA change (hg38) g.78306379G>C
Published as -
ISCN -
DB-ID PSAT1_000014
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Fatima Abdelfattah
Database submission license No license selected
Created by Fatima Abdelfattah
Date created 2020-03-31 12:49:46 +02:00 (CEST)
Date last edited 2020-04-17 19:23:43 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PSAT1 NM_021154.3 +?/. 5 c.463G>C r.(?) p.(Glu155Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000297143 DNA SEQ;SEQ-NG - - PSAT1 2 Fatima Abdelfattah


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