Variant #0000700016 (NC_000023.10:g.135289239C>G, FHL1(NM_001159702.2):c.221C>G)

Individual ID 00316228
Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.135289239C>G
DNA change (hg38) g.136207080C>G
Published as -
ISCN -
DB-ID FHL1_000096
Variant remarks -
Reference PubMed: Walsh 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/1535 cases
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FHL1 NM_001159702.2 ?/. - c.221C>G r.(?) p.(Pro74Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000317410 DNA SEQ;SEQ-NG - cardiomyopathy gene panel FHL1 1 Johan den Dunnen