Variant #0000574789 (NC_000023.10:g.153599552_153599554dup, FLNA(NM_001110556.1):c.62_64dup)

Chromosome X
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.153599552_153599554dup
DNA change (hg38) g.154371184_154371186dup
Published as FLNA(NM_001110556.1):c.64_65insTCG (p.(Val21dup)), FLNA(NM_001110556.2):c.58_60dupTCG (p.V21dup), FLNA(NM_001110556.2):c.62_64dupTCG (p.V21dup)
ISCN -
DB-ID FLNA_000281 See all 4 reported entries
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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FLNA NM_001110556.1 ?/. - c.62_64dup r.(?) p.(Val21dup)