Variant #0000926894 (NC_000019.9:g.42383350C>T, NM_004706.3:c.-4026C>T (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.42383350C>T
DNA change (hg38) -
Published as CD79A(NM_001783.3):c.370C>T (p.R124C), CD79A(NM_001783.4):c.370C>T (p.R124C)
ISCN -
DB-ID ARHGEF1_000020 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) 0.00014 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
Date created 2023-04-16 21:50:28 +02:00 (CEST)
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.370C>T r.(?) p.(Arg124Cys)
ARHGEF1 NM_004706.3 ?/. - c.-4026C>T r.(?) p.(=)


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