Variant #0000337428 (NC_000001.10:g.197297540A>T, CRB1(NM_201253.2):c.71-12A>T)

Chromosome 1
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.197297540A>T
DNA change (hg38) g.197328410A>T
Published as CRB1(NM_001257965.2):c.-137-12A>T
ISCN -
DB-ID CRB1_000239 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.44765 View details
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CRB1 NM_201253.2 -/. - c.71-12A>T r.(=) p.(=)