Variant #0000606035 (NC_000002.11:g.105979871C>A, FHL2(NM_001039492.2):c.559G>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.105979871C>A
DNA change (hg38) g.105363414C>A
Published as FHL2(NM_201555.1):c.559G>T (p.V187L)
ISCN -
DB-ID C2orf49_000005
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) 0.0001 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.559G>T r.(?) p.(Val187Leu)
C2orf49 NM_024093.1 ?/. - c.*18043C>A r.(=) p.(=)