Variant #0000613025 (NC_000011.9:g.111781098C>A, NM_001885.1:c.277G>T (CRYAB))

Chromosome 11
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.111781098C>A
DNA change (hg38) g.111910374C>A
Published as CRYAB(NM_001885.1):c.277G>T (p.(Val93Leu)), CRYAB(NM_001885.2):c.277G>T (p.V93L), CRYAB(NM_001885.3):c.277G>T (p.V93L)
ISCN -
DB-ID CRYAB_000047 See all 6 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 View details
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
Date created 2019-12-04 15:24:38 +01:00 (CET)
Date last edited 2024-08-28 13:16:32 +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.-2456C>A r.(?) p.(=)
CRYAB NM_001885.1 ?/. - c.277G>T r.(?) p.(Val93Leu)


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