Variant #0000002910 (NC_000001.11:g.23818G>A, CR2(NM_001006658.3):c.1916G>A)

Individual ID 00000713
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.23818G>A
Published as -
Reference Adiratna Mat Ripen et al.(2020)
DB-ID CR2_000001 See all 2 reported entries
dbSNP ID rs17615
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
CR2 NM_001006658.3 +/. 10 c.1916G>A - r.(?) p.(Ser639Asn) Damaging



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000792 DNA PCR;SEQ CR2 2 Nur Aisyah Athirah