Variant #0000682123 (NC_000023.10:g.135761794C>T, ARHGEF6(NM_004840.2):c.1730G>A)

Chromosome X
Allele Unknown
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.135761794C>T
DNA change (hg38) -
Published as ARHGEF6(NM_004840.2):c.1730G>A (p.R577Q)
ISCN -
DB-ID ARHGEF6_000045
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 1.0E-5 View details
Owner VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARHGEF6 NM_004840.2 ?/. - c.1730G>A r.(?) p.(Arg577Gln)