Variant #0000841399 (NC_000012.11:g.32777917A>C, NM_139241.2:c.1550A>C (FGD4))

Individual ID 00404077
Chromosome 12
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.32777917A>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID FGD4_000071
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Sherifa Ahmed Hamed
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Sherifa Ahmed Hamed
Date created 2022-02-25 23:21:08 +01:00 (CET)
Date last edited 2022-03-03 10:21:20 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FGD4 NM_139241.2 +/. 13 c.1550A>C r.(?) p.(Gln517Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000405314 DNA SEQ blood - FGD4 1 Sherifa Ahmed Hamed


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