Variant #0000249724 (NC_000023.10:g.41604839A>C, CASK(NM_003688.3):c.294T>G)

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.41604839A>C
DNA change (hg38) g.41745586A>C
Published as CASK(NM_003688.4):c.294T>G (p.D98E)
ISCN -
DB-ID CASK_000049
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_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2023-01-11 15:44:22 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CASK NM_003688.3 ?/. - c.294T>G r.(?) p.(Asp98Glu)
GPR34 NM_005300.3 ?/. - c.*48807A>C r.(=) p.(=)
GPR82 NM_080817.4 ?/. - c.*17549A>C r.(=) p.(=)