Variant #0000508837 (NC_000002.11:g.105984040_105984041del, FHL2(NM_001039492.2):c.487_488del)

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.105984040_105984041del
DNA change (hg38) g.105367583_105367584del
Published as FHL2(NM_201555.1):c.487_488delGT (p.V163Sfs*42)
ISCN -
DB-ID FHL2_000019
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) Variant not found in online data sets
Owner VKGL-NL_Groningen
Database submission license No license selected
Created by VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FHL2 NM_001039492.2 ?/. - c.487_488del r.(?) p.(Val163SerfsTer42)