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 InternationalCreative Commons License
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)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
CLRN1 NM_001195794.1 +/. - c.144T>G r.(?) p.(Asn48Lys) -
CLRN1 NM_174878.2 +/. - c.144T>G r.(?) p.(Asn48Lys) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000329136 DNA SEQ-NG - WES CLRN1 2 LOVD


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