Variant #0001025577 (NC_000009.11:g.123239643A>G, NM_018249.4:c.1712T>C (CDK5RAP2))

Chromosome 9
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.123239643A>G
DNA change (hg38) -
Published as CDK5RAP2(NM_018249.5):c.1712T>C (p.L571P)
ISCN -
DB-ID CDK5RAP2_000073
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) 0.00852 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2025-02-07 18:57:27 +01:00 (CET)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CDK5RAP2 NM_018249.4 ?/. - c.1712T>C r.(?) p.(Leu571Pro)


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