Variant #0000727383 (NC_000019.9:g.42383677T>C, NM_004706.3:c.-3699T>C (ARHGEF1))

Chromosome 19
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.42383677T>C
DNA change (hg38) -
Published as CD79A(NM_001783.3):c.452T>C (p.I151T)
ISCN -
DB-ID ARHGEF1_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) 0 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 2021-02-08 18:36:18 +01:00 (CET)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CD79A NM_001783.3 ?/. - c.452T>C r.(?) p.(Ile151Thr)
ARHGEF1 NM_004706.3 ?/. - c.-3699T>C r.(?) p.(=)


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.