Variant #0000272639 (NC_000023.10:g.41469208T>C, CASK(NM_003688.3):c.1104A>G)

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.41469208T>C
DNA change (hg38) g.41609955T>C
Published as CASK(NM_003688.3):c.1104A>G (p.L368=)
ISCN -
DB-ID CASK_000037 See all 2 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) Retrieve
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2020-07-19 19:23:41 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CASK NM_003688.3 -?/. - c.1104A>G r.(?) p.(Leu368=)
GPR34 NM_005300.3 -?/. - c.-79226T>C r.(?) p.(=)
GPR82 NM_080817.4 -?/. - c.-114440T>C r.(?) p.(=)