Variant #0000659103 (NC_000023.10:g.135825865T>C, ARHGEF6(NM_004840.2):c.540A>G)

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.135825865T>C
DNA change (hg38) g.136743706T>C
Published as ARHGEF6(NM_004840.2):c.540A>G (p.S180=)
ISCN -
DB-ID ARHGEF6_000044
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) 0.00125 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.540A>G r.(?) p.(Ser180=)