Variant #0000927369 (NC_000023.10:g.41401976T>C, NM_003688.3:c.2123A>G (CASK))

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.41401976T>C
DNA change (hg38) -
Published as CASK(NM_003688.4):c.2123A>G (p.Y708C)
ISCN -
DB-ID CASK_000149
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) 1.0E-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 2023-04-16 21:50:28 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CASK NM_003688.3 ?/. - c.2123A>G r.(?) p.(Tyr708Cys)
GPR34 NM_005300.3 ?/. - c.-146458T>C r.(?) p.(=)
GPR82 NM_080817.4 ?/. - c.-181672T>C r.(?) p.(=)


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