Variant #0000508840 (NC_000002.11:g.105989996A>T, FHL2(NM_001039492.2):c.331+20T>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.105989996A>T
DNA change (hg38) g.105373539A>T
Published as FHL2(NM_201555.1):c.331+20T>A
ISCN -
DB-ID FHL2_000021
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 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.331+20T>A r.(=) p.(=)