Variant #0000436114 (NC_000023.10:g.135289328T>C, FHL1(NM_001159702.2):c.310T>C)
Individual ID |
00205479 |
Chromosome |
X |
Allele |
Maternal (confirmed) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.135289328T>C |
DNA change (hg38) |
g.136207169T>C |
Published as |
- |
ISCN |
- |
DB-ID |
FHL1_000018 See all 2 reported entries |
Variant remarks |
not in >250 control chromosomes |
Reference |
PubMed: Shalaby 2009, OMIM:var0009 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
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 |
2012-11-02 20:42:34 +01:00 (CET) |

Variant on transcripts
Screenings
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