Variant #0000508834 (NC_000002.11:g.105977882C>T, FHL2(NM_001039492.2):c.698G>A)

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.105977882C>T
DNA change (hg38) g.105361425C>T
Published as FHL2(NM_201555.1):c.698G>A (p.G233D)
ISCN -
DB-ID C2orf49_000002
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FHL2 NM_001039492.2 ?/. - c.698G>A r.(?) p.(Gly233Asp)
C2orf49 NM_024093.1 ?/. - c.*16054C>T r.(=) p.(=)