Variant #0000659340 (NC_000023.10:g.48674919G>A, HDAC6(NM_006044.2):c.1670G>A)

Chromosome X
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.48674919G>A
DNA change (hg38) g.48816512G>A
Published as HDAC6(NM_001321226.2):c.1670G>A (p.R557Q)
ISCN -
DB-ID HDAC6_000053
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) 3.0E-5 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 2020-03-23 16:13:27 +01:00 (CET)
Date last edited 2021-09-17 14:40:49 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HDAC6 NM_006044.2 ?/. - c.1670G>A r.(?) p.(Arg557Gln)