Variant #0000571638 (NC_000022.10:g.27019197G>C, NC_000022.10(NM_001886.2):c.40-1G>C (CRYBA4))

Chromosome 22
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.27019197G>C
DNA change (hg38) g.26623233G>C
Published as CRYBA4(NM_001886.2):c.40-1G>C
ISCN -
DB-ID CRYBA4_000012 See all 4 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00334 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2024-04-19 20:27:30 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CRYBA4 NM_001886.2 -?/. - c.40-1G>C r.spl? p.?


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