Variant #0000253947 (NC_000023.10:g.135764130A>G, ARHGEF6(NM_004840.2):c.1480-3T>C)

Chromosome X
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.135764130A>G
DNA change (hg38) g.136681971A>G
Published as ARHGEF6(NM_004840.2):c.1480-3T>C (, p.?)
ISCN -
DB-ID ARHGEF6_000017 See all 2 reported entries
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) 0.0013 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.1480-3T>C r.spl? p.?