Variant #0000508839 (NC_000002.11:g.105984191G>A, FHL2(NM_001039492.2):c.337C>T)

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 FHL2(NM_201555.1):c.337C>T (p.R113C)
ISCN -
DB-ID FHL2_000002 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00041 View details
Owner VKGL-NL_AMC
Database submission license No license selected
Created by VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

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