Variant #0000262920 (NC_000023.10:g.135750304G>T, ARHGEF6(NM_004840.2):c.2215C>A)

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.135750304G>T
DNA change (hg38) g.136668145G>T
Published as ARHGEF6(NM_004840.2):c.2215C>A (p.L739M)
ISCN -
DB-ID ARHGEF6_000011
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) 0.00024 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.2215C>A r.(?) p.(Leu739Met)