Variant #0000542342 (NC_000011.9:g.111782333G>A, NM_001885.1:c.116C>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.111782333G>A
DNA change (hg38) g.111911609G>A
Published as CRYAB(NM_001885.2):c.116C>T (p.P39L), CRYAB(NM_001885.3):c.116C>T (p.P39L)
ISCN -
DB-ID CRYAB_000051 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) 0.00024 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Date created 2019-07-18 18:22:55 +02:00 (CEST)
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.-1221G>A r.(?) p.(=)
CRYAB NM_001885.1 ?/. - c.116C>T r.(?) p.(Pro39Leu)


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