Variant #0000436119 (NC_000023.10:g.135290080A>C, FHL1(NM_001159702.2):c.461A>C)

Individual ID 00205484
Chromosome X
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.135290080A>C
DNA change (hg38) g.136207921A>C
Published as -
ISCN -
DB-ID FHL1_000023
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Zohreh Fattahi
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 +?/. 5 c.461A>C r.(?) p.(His154Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000206513 DNA SEQ-NG-I - - FHL1 1 Zohreh Fattahi