Variant #0000713689 (NC_000003.11:g.150690352A>C, NM_174878.2:c.144T>G (CLRN1))
Individual ID |
00327921 |
Chromosome |
3 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic (recessive) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.150690352A>C |
DNA change (hg38) |
- |
Published as |
3:150690352A>C ENST00000328863.4:c.144T>G (Asn48Lys) |
ISCN |
- |
DB-ID |
CLRN1_000007 See all 100 reported entries |
Variant remarks |
- |
Reference |
PubMed: Carss 2017 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00026 View details |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2021-01-27 12:09:59 +01:00 (CET) |
Date last edited |
2021-01-27 12:17:06 +01:00 (CET) |

Variant on transcripts
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