Variant #0000052030 (NC_000023.10:g.153599498G>C, NM_001110556.1:c.116C>G (FLNA))

Individual ID 00028749
Chromosome X
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.153599498G>C
DNA change (hg38) g.154371130G>C
Published as -
ISCN -
DB-ID FLNA_000036
Variant remarks not in236 control chromosomes
Reference PubMed: Sheen 2005, OMIM:var0019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Yu Sun
Database submission license No license selected
Created by Yu Sun
Date created 2010-04-02 16:29:25 +02:00 (CEST)
Date last edited 2012-06-19 21:10:58 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FLNA NM_001110556.1 +/. 2 c.116C>G r.(?) p.(Ala39Gly)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000028760 DNA SEQ - - FLNA 1 Yu Sun


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