Variant #0000463736 (NC_000023.10:g.135290105C>G, FHL1(NM_001159702.2):c.486C>G)

Individual ID 00220714
Chromosome X
Allele Maternal (inferred)
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.135290105C>G
DNA change (hg38) g.136207946C>G
Published as -
ISCN -
DB-ID FHL1_000072
Variant remarks -
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
Date created 2019-02-06 14:15:12 +01:00 (CET)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FHL1 NM_001159702.2 ?/. 5 c.486C>G r.(?) p.(Cys162Trp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000221785 DNA SEQ;SEQ-NG - targeted gene panel - 1 Madhuri Hegde