Variant #0000331383 (NC_000007.13:g.2579495G>A, BRAT1(NM_152743.3):c.1423C>T)

Chromosome 7
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.2579495G>A
DNA change (hg38) g.2539861G>A
Published as BRAT1(NM_152743.3):c.1423C>T (p.(Leu475Phe))
ISCN -
DB-ID BRAT1_000005
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BRAT1 NM_152743.3 ?/. - c.1423C>T r.(?) p.(Leu475Phe)