Variant #0000681421 (NC_000019.9:g.42388536T>A, NC_000019.9(NM_004706.3):c.-20+1180T>A (ARHGEF1))

Chromosome 19
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.42388536T>A
DNA change (hg38) -
Published as ARHGEF1(NM_199002.1):c.2T>A (p.M1?)
ISCN -
DB-ID ARHGEF1_000016
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) 6.0E-5 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 2020-08-06 14:59:34 +02:00 (CEST)
Date last edited 2020-09-15 15:50:26 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CD79A NM_001783.3 -?/. - c.*3489T>A r.(=) p.(=)
ARHGEF1 NM_004706.3 -?/. - c.-20+1180T>A r.(=) p.(=)


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