Variant #0000436112 (NC_000023.10:g.135290077G>A, FHL1(NM_001159702.2):c.458G>A)

Individual ID 00205477
Chromosome X
Allele Maternal (confirmed)
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.135290077G>A
DNA change (hg38) g.136207918G>A
Published as -
ISCN -
DB-ID FHL1_000016 See all 3 reported entries
Variant remarks -
Reference PubMed: Schessl 2008, OMIM:var0007
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2009-09-11 20:47:21 +02:00 (CEST)
Date last edited 2012-11-02 20:42:34 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FHL1 NM_001159702.2 +/. 5 c.458G>A r.458g>a p.Cys153Tyr



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000206506 RNA;DNA RT-PCR;SEQ - - FHL1 1 Johan den Dunnen