Variant #0001041474 (NC_000016.9:g.89266271dup, NM_004933.2:c.*4708dup (CDH15))

Chromosome 16
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.89266271dup
DNA change (hg38) -
Published as SLC22A31(NM_001384768.1):c.-345-2dup
ISCN -
DB-ID CDH15_000080
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC22A31 NM_001242757.1 ?/. - c.-347dup r.(?) p.(=)
CDH15 NM_004933.2 ?/. - c.*4708dup r.(?) p.(=)


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