Variant #0001036754 (NC_000008.10:g.141381180C>A, NM_001160372.1:c.1234G>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.141381180C>A
DNA change (hg38) -
Published as TRAPPC9(NM_001160372.4):c.1234G>T (p.(Ala412Ser))
ISCN -
DB-ID TRAPPC9_000081
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) 8.0E-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 2025-05-05 21:14:00 +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     
TRAPPC9 NM_001160372.1 ?/. - c.1234G>T r.(?) p.(Ala412Ser)


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