Variant #0000927587 (NC_000017.10:g.1673322_1673326dup, NM_002615.5:c.261_265dup (SERPINF1))

Individual ID 00435097
Chromosome 17
Allele Both (homozygous)
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.1673322_1673326dup
DNA change (hg38) g.1770028_1770032dup
Published as 259_260insCGGCC
ISCN -
DB-ID SERPINF1_000098
Variant remarks -
Reference PubMed: Zhalsanova 2023
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Kim Worring
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Kim Worring
Date created 2023-05-09 14:10:40 +02:00 (CEST)
Date last edited 2023-05-26 08:54:10 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SERPINF1 NM_002615.5 +/. - c.261_265dup r.(?) p.(Leu89Argfs*26)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000436569 DNA SEQ-NG - whole exome sequencing (WES) - 1 Kim Worring


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