Variant #0001037158 (NC_000009.11:g.123298756_123298757del, NM_018249.4:c.558_559del (CDK5RAP2))

Chromosome 9
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.123298756_123298757del
DNA change (hg38) -
Published as CDK5RAP2(NM_018249.6):c.558_559del (p.(Glu186Aspfs*32))
ISCN -
DB-ID CDK5RAP2_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_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2025-05-05 21:14:00 +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     
CDK5RAP2 NM_018249.4 +?/. - c.558_559del r.(?) p.(Glu186Aspfs*32)


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