Genomic variant #0000234450

Individual ID 00143188
Chromosome 4
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.155530894del
DNA change (hg38) g.154609742del
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 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Joshi Stephen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

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     
0000144045 DNA SEQ-NG - Whole exome sequencing - 2 Joshi Stephen