Variant #0000533855 (NC_000008.10:g.141407834G>A, NM_001160372.1:c.1019C>T (TRAPPC9))

Chromosome 8
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.141407834G>A
DNA change (hg38) g.140397735G>A
Published as TRAPPC9(NM_001160372.4):c.1019C>T (p.(Ala340Val)), TRAPPC9(NM_001321646.1):c.992C>T (p.A331V)
ISCN -
DB-ID TRAPPC9_000045 See all 2 reported entries
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) 0.00044 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 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2024-04-19 20:27:30 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TRAPPC9 NM_001160372.1 ?/. - c.1019C>T r.(?) p.(Ala340Val)


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