Variant #0000252981 (NC_000011.9:g.111781047A>C, NC_000011.9(NM_001885.1):c.324+4T>G (CRYAB))

Chromosome 11
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.111781047A>C
DNA change (hg38) g.111910323A>C
Published as CRYAB(NM_001885.2):c.324+4T>G, CRYAB(NM_001885.3):c.324+4T>G
ISCN -
DB-ID CRYAB_000015 See all 5 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) 0.27405 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 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2021-09-17 14:40:49 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HSPB2 NM_001541.3 -/. - c.-2507A>C r.(?) p.(=)
CRYAB NM_001885.1 -/. - c.324+4T>G r.spl? p.?


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