Variant #0000652800 (NC_000023.10:g.135790866C>A, ARHGEF6(NM_004840.2):c.891G>T)

Individual ID 00294943
Chromosome X
Allele Parent #1
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.135790866C>A
DNA change (hg38) g.136708707C>A
Published as -
ISCN -
DB-ID ARHGEF6_000034 See all 2 reported entries
Variant remarks 1 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs5974620
Origin Germline
Segregation -
Frequency 1/2788 individuals
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00228 View details
Owner Mohammed Faruq
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARHGEF6 NM_004840.2 -?/. - c.891G>T r.(?) p.(Gln297His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000296111 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq