Variant #0000234448 (NC_000004.11:g.155530895del, NM_021870.2:c.554del (FGG))

Individual ID 00143186
Chromosome 4
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.155530895del
DNA change (hg38) g.154609743del
Published as -
ISCN -
DB-ID FGG_000002 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner N/A
Database submission license No license selected
Created by N/A
Date created 2017-11-28 17:52:12 +01:00 (CET)
Date last edited 2020-06-16 16:21:09 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
FGG NM_021870.2 +?/. 6 c.554del r.(?) p.(Lys185Argfs*14) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000144043 DNA SEQ-NG - Whole exome sequencing - 2 -


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