Variant #0000036669 (NC_000002.11:g.105990027_105990028dup, FHL2(NM_001039492.2):c.319_320dup)

Individual ID 00016584
Chromosome 2
Allele Both (homozygous)
Affects function (as reported) Probably does not affect function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.105990027_105990028dup
DNA change (hg38) g.105373570_105373571dup
Published as -
ISCN -
DB-ID FHL2_000001
Variant remarks variant not assocciated with RD phenotype; description in paper c.321_322insAC/p.(Thr107fs) does not make sense
Reference PubMed: Sergouniotis 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license No license selected
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FHL2 NM_001039492.2 -?/? 4 c.319_320dup r.(?) p.(Ile108Profs*104)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016536 DNA SEQ - - FHL2, TTLL5, ZKSCAN4 3 Marianne Vos (LOVD-team)