Variant #0000546131 (NC_000011.9:g.95564285del, NM_016156.5:c.*4169del (MTMR2))

Chromosome 11
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.95564285del
DNA change (hg38) g.95831121del
Published as CEP57(NM_001243776.1):c.1341delC (p.(Thr448GlnfsTer10))
ISCN -
DB-ID CEP57_000017
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 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2020-07-01 11:14:56 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CEP57 NM_014679.4 ?/. - c.1368del r.(?) p.(Thr457GlnfsTer10)
MTMR2 NM_016156.5 ?/. - c.*4169del r.(?) p.(=)


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