Variant #0000436114 (NC_000023.10:g.135289328T>C, FHL1(NM_001159702.2):c.310T>C)

Individual ID 00205479
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.135289328T>C
DNA change (hg38) g.136207169T>C
Published as -
ISCN -
DB-ID FHL1_000018 See all 2 reported entries
Variant remarks not in >250 control chromosomes
Reference PubMed: Shalaby 2009, OMIM:var0009
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 +/. 4 c.310T>C r.(?) p.(Cys104Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000206508 DNA SEQ - - FHL1 1 Johan den Dunnen