Variant #0000660369 (NC_000007.13:g.144070303A>G, NM_005435.3:c.4066A>G (ARHGEF5))

Individual ID 00296609
Chromosome 7
Allele Parent #2
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.144070303A>G
DNA change (hg38) g.144373210A>G
Published as -
ISCN -
DB-ID ARHGEF5_000008
Variant remarks -
Reference PubMed: Taylor 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00012 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-04-08 15:05:07 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARHGEF5 NM_005435.3 ?/. - c.4066A>G r.(?) p.(Asn1356Asp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000297719 DNA SEQ;SEQ-NG - WES - 8 Johan den Dunnen


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