Variant #0000659102 (NC_000023.10:g.135814309G>A, ARHGEF6(NM_004840.2):c.684C>T)

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.135814309G>A
DNA change (hg38) g.136732150G>A
Published as ARHGEF6(NM_004840.2):c.684C>T (p.A228=)
ISCN -
DB-ID ARHGEF6_000043
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) 3.0E-5 View details
Owner VKGL-NL_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARHGEF6 NM_004840.2 -?/. - c.684C>T r.(?) p.(Ala228=)