Variant #0000096973 (NC_000002.11:g.105984191G>A, FHL2(NM_001039492.2):c.337C>T)

Individual ID 00065147
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.105984191G>A
DNA change (hg38) g.105367734G>A
Published as -
ISCN -
DB-ID FHL2_000002 See all 2 reported entries
Variant remarks -
Reference PubMed: Neubauer 2017, Journal: Neubauer 2017
ClinVar ID -
dbSNP ID rs140148322
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00041 View details
Owner Cordula Haas
Database submission license No license selected
Created by Cordula Haas
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FHL2 NM_001039492.2 ?/. 5 c.337C>T r.(?) p.(Arg113Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000065298 DNA SEQ-NG-I - - - 2 Cordula Haas