Variant #0000393296 (NC_000023.10:g.135789121T>C, ARHGEF6(NM_004840.2):c.992A>G)

Individual ID 00172556
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.135789121T>C
DNA change (hg38) g.136706962T>C
Published as -
ISCN -
DB-ID ARHGEF6_000021 See all 2 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) 2.0E-5 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.992A>G r.(?) p.(Tyr331Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000173439 DNA SEQ - - GABRE 1 Lucy Raymond