Variant #0000463742 (NC_000023.10:g.(?_135229559)_(135293518_?)del, FHL1(NM_001159702.2):c.0)

Individual ID 00221915
Chromosome X
Allele Maternal (inferred)
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.(?_135229559)_(135293518_?)del
DNA change (hg38) -
Published as del gene
ISCN -
DB-ID FHL1_000062
Variant remarks no sequence FHL gene
Reference PubMed: Nallamilli 2018
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Madhuri Hegde
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FHL1 NM_001159702.2 +/. _1_8_ c.0 r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000222986 DNA SEQ;SEQ-NG - targeted gene panel - 1 Madhuri Hegde