Variant #0000508833 (NC_000002.11:g.105977881G>T, FHL2(NM_001039492.2):c.699C>A)

Chromosome 2
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.105977881G>T
DNA change (hg38) g.105361424G>T
Published as FHL2(NM_201555.1):c.699C>A (p.G233=)
ISCN -
DB-ID C2orf49_000001
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) 1.0E-5 View details
Owner VKGL-NL_AMC
Database submission license No license selected
Created by VKGL-NL_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FHL2 NM_001039492.2 -/. - c.699C>A r.(?) p.(Gly233=)
C2orf49 NM_024093.1 -/. - c.*16053G>T r.(=) p.(=)