Variant #0000335680 (NC_000023.10:g.135770113A>G, ARHGEF6(NM_004840.2):c.1223T>C)

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.135770113A>G
DNA change (hg38) g.136687954A>G
Published as ARHGEF6(NM_004840.2):c.1223T>C (p.(Ile408Thr))
ISCN -
DB-ID ARHGEF6_000020
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) 0.00018 View details
Owner VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARHGEF6 NM_004840.2 ?/. - c.1223T>C r.(?) p.(Ile408Thr)