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 International |
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) |

Variant on transcripts
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