Variant #0000659763 (NC_000009.11:g.80942966G>T, NC_000009.11(NM_021154.3):c.870-1G>T (PSAT1))

Individual ID 00295970
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.80942966G>T
DNA change (hg38) g.78328980G>T
Published as -
ISCN -
DB-ID PSAT1_000012 See all 3 reported entries
Variant remarks Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message.
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Fatima Abdelfattah
Database submission license No license selected
Created by Fatima Abdelfattah
Date created 2020-03-31 12:27:52 +02:00 (CEST)
Date last edited 2020-04-26 10:45:36 +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.870-1G>T r.spl p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000297141 DNA SEQ;SEQ-NG - - PSAT1 1 Fatima Abdelfattah


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