Variant #0000664282 (NC_000009.11:g.80919755C>T, NM_021154.3:c.296C>T (PSAT1))

Individual ID 00300236
Chromosome 9
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.80919755C>T
DNA change (hg38) g.78304839C>T
Published as -
ISCN -
DB-ID PSAT1_000016 See all 6 reported entries
Variant remarks we were not able to identify the second allele. We had just the maternal sample and FFPE from the index. Also it was impossible to have the paternal sample. The parents were separated
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00017 View details
Owner Fatima Abdelfattah
Database submission license No license selected
Created by Fatima Abdelfattah
Date created 2020-04-24 14:51:27 +02:00 (CEST)
Date last edited 2020-04-26 11:04:55 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PSAT1 NM_021154.3 +/. - c.296C>T r.(?) p.(Ala99Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000301363 DNA SEQ - - PSAT1 1 Fatima Abdelfattah


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