Variant #0000995295 (NC_000006.11:g.118803006C>A, NM_002667.3:c.-66647C>A (PLN))

Chromosome 6
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.118803006C>A
DNA change (hg38) -
Published as CEP85L(NM_001042475.2):c.1681G>T (p.(Asp561Tyr))
ISCN -
DB-ID PLN_000066
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) 3.0E-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 2024-08-28 13:16:32 +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     
CEP85L NM_001042475.2 ?/. - c.1681G>T r.(?) p.(Asp561Tyr)
PLN NM_002667.3 ?/. - c.-66647C>A r.(?) p.(=)


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