Variant #0000436119 (NC_000023.10:g.135290080A>C, FHL1(NM_001159702.2):c.461A>C)
Individual ID |
00205484 |
Chromosome |
X |
Allele |
Parent #1 |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.135290080A>C |
DNA change (hg38) |
g.136207921A>C |
Published as |
- |
ISCN |
- |
DB-ID |
FHL1_000023 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Zohreh Fattahi |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |

Variant on transcripts
Screenings
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