Variant #0000393295 (NC_000023.10:g.135827479C>T, ARHGEF6(NM_004840.2):c.362G>A)

Individual ID 00172555
Chromosome X
Allele Parent #1
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.135827479C>T
DNA change (hg38) g.136745320C>T
Published as -
ISCN -
DB-ID ARHGEF6_000024 See all 5 reported entries
Variant remarks found once, nonrecurrent change
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00468 View details
Owner Lucy Raymond
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARHGEF6 NM_004840.2 ?/. - c.362G>A r.(?) p.(Arg121His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000173438 DNA SEQ - - GABRE 1 Lucy Raymond