Variant #0000436121 (NC_000023.10:g.135289986C>T, FHL1(NM_001159702.2):c.367C>T)

Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification NA
DNA change (genomic) (Relative to hg19 / GRCh37) g.135289986C>T
DNA change (hg38) g.136207827C>T
Published as -
ISCN -
DB-ID FHL1_000013 See all 2 reported entries
Variant remarks expression cloning COS-7 and C2C12 cells gives dense large inclusions (mostly adjacent to nucleus)
Reference PubMed: Schessl 2008, OMIM:var0004
ClinVar ID -
dbSNP ID -
Origin In vitro (cloned)
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 2020-07-14 21:50:58 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FHL1 NM_001159702.2 +/. 5 c.367C>T r.367c>u p.His123Tyr