Variant #0000852750 (NC_000011.9:g.111783826G>C, NM_001885.1:c.-1378C>G (CRYAB))

Chromosome 11
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.111783826G>C
DNA change (hg38) -
Published as CRYAB(NM_001885.3):c.-199+3C>G
ISCN -
DB-ID CRYAB_000064
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) Retrieve
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
Date created 2022-05-09 15:40:45 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HSPB2 NM_001541.3 -?/. - c.94+179G>C r.(=) p.(=)
CRYAB NM_001885.1 -?/. - c.-1378C>G r.(?) p.(=)
HSPB2-C11orf52 NR_037651.1 -?/. - n.188+179G>C r.(?) -


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