Variant #0000683442 (NC_000001.10:g.40562833_40562837dup, NM_000310.3:c.74_78dup (PPT1))

Individual ID 00307857
Chromosome 1
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.40562833_40562837dup
DNA change (hg38) -
Published as -
ISCN -
DB-ID PPT1_000097
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Corina-Marcela Rus
Database submission license No license selected
Created by Corina-Marcela Rus
Date created 2020-08-19 23:18:10 +02:00 (CEST)
Date last edited 2020-08-23 15:21:50 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PPT1 NM_000310.3 +?/. 1 c.74_78dup r.(?) p.(Leu27Serfs*12)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000308999 DNA SEQ DNA - PPT1 1 Corina-Marcela Rus


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