Variant #0000266576 (NC_000019.9:g.42383351G>A, NM_004706.3:c.-4025G>A (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.42383351G>A
DNA change (hg38) g.41879281G>A
Published as CD79A(NM_001783.4):c.371G>A (p.R124H)
ISCN -
DB-ID CD79A_000003
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) 0.00078 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2023-01-11 15:44:22 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CD79A NM_001783.3 ?/. - c.371G>A r.(?) p.(Arg124His)
ARHGEF1 NM_004706.3 ?/. - c.-4025G>A r.(?) p.(=)


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