Variant #0000659305 (NC_000023.10:g.41420810_41420811insAA, NC_000023.10(NM_003688.3):c.1668+2_1668+3insTT (CASK))

Chromosome X
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.41420810_41420811insAA
DNA change (hg38) g.41561557_41561558insAA
Published as -
ISCN -
DB-ID CASK_000117
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_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
Date created 2020-03-23 16:13:27 +01:00 (CET)
Date last edited 2020-07-19 19:20:31 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CASK NM_003688.3 +?/. - c.1668+2_1668+3insTT r.spl? p.?
GPR34 NM_005300.3 +?/. - c.-127624_-127623insAA r.(?) p.(=)
GPR82 NM_080817.4 +?/. - c.-162838_-162837insAA r.(?) p.(=)


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.