Variant #0000254315 (NC_000023.10:g.135861653A>G, ARHGEF6(NM_004840.2):c.169T>C)

Chromosome X
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.135861653A>G
DNA change (hg38) g.136779494A>G
Published as ARHGEF6(NM_004840.2):c.169T>C (p.C57R)
ISCN -
DB-ID ARHGEF6_000026
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00058 View details
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARHGEF6 NM_004840.2 -?/. - c.169T>C r.(?) p.(Cys57Arg)