Variant #0000701530 (NC_000002.11:g.105984137G>A, FHL2(NM_001039492.2):c.391C>T)

Individual ID 00317742
Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.105984137G>A
DNA change (hg38) g.105367680G>A
Published as -
ISCN -
DB-ID FHL2_000035
Variant remarks VUS favour pathogenic
Reference PubMed: Walsh 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/121 cases
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 ?/. - c.391C>T r.(?) p.(Arg131Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000318924 DNA SEQ;SEQ-NG - cardiomyopathy gene panel FHL2 1 Johan den Dunnen