Variant #0000797177 (NC_000001.10:g.197237613G>A, CRB1(NM_201253.2):c.70+1G>A)

Individual ID 00381938
Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.197237613G>A
DNA change (hg38) g.197268483G>A
Published as allele 1: c.70+1G>A/p.?, allele 2: c.2042G>A/p.C681Y
ISCN -
DB-ID CRB1_000435
Variant remarks heterozygous
Reference PubMed: Weisschuh 2018
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CRB1 NM_201253.2 +?/. - c.70+1G>A r.spl p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000383154 DNA SEQ-NG-I;SEQ blood targeted resequencing using MIPs library prep; 108-gene panel - 2 LOVD