Variant #0000575989 (NC_000023.10:g.41394233C>T, NC_000023.10(NM_003688.3):c.2156-22G>A (CASK))

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.41394233C>T
DNA change (hg38) g.41534980C>T
Published as CASK(NM_001126055.2):c.2069-7G>A (p.(=))
ISCN -
DB-ID CASK_000076
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) 5.0E-5 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2020-03-23 16:13:27 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CASK NM_003688.3 -?/. - c.2156-22G>A r.(=) p.(=)
GPR34 NM_005300.3 -?/. - c.-154201C>T r.(?) p.(=)
GPR82 NM_080817.4 -?/. - c.-189415C>T r.(?) p.(=)


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