Variant #0000009868 (NC_000023.10:g.135252236del, FHL1(NM_001159702.2):c.-27+97del)

Individual ID 00000209
Chromosome X
Allele Maternal (inferred)
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.135252236del
DNA change (hg38) g.136170077del
Published as -
ISCN -
DB-ID FHL1_000025 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Yu Sun
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Ivo F.A.C. Fokkema
Date created 2012-09-13 12:10:00 +02:00 (CEST)
Date last edited 2017-11-27 16:09:25 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FHL1 NM_001159702.2 -?/. 2i c.-27+97del r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000210 DNA SEQ-NG-I - - - 6404 Yu Sun