Variant #0000646978 (NC_000002.11:g.106002832C>T, FHL2(NM_001039492.2):c.142G>A)

Individual ID 00289149
Chromosome 2
Allele Parent #2
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.106002832C>T
DNA change (hg38) g.105386375C>T
Published as -
ISCN -
DB-ID FHL2_000033
Variant remarks -
Reference PubMed: Evilä 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 3.0E-5 View details
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 +?/. 2 c.142G>A r.(?) p.(Gly48Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000290319 DNA SEQ;SEQ-NG - MyoCap 180 myopathy gene panel FHL2 1 Johan den Dunnen