Variant #0000276741 (NC_000002.11:g.105979730C>A, FHL2(NM_001039492.2):c.688+12G>T)

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.105979730C>A
DNA change (hg38) g.105363273C>A
Published as FHL2(NM_201555.1):c.688+12G>T
ISCN -
DB-ID FHL2_000008 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 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.33297 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.688+12G>T r.(=) p.(=)
C2orf49 NM_024093.1 -/. - c.*17902C>A r.(=) p.(=)