Variant #0000573782 (NC_000023.10:g.135814308C>T, ARHGEF6(NM_004840.2):c.685G>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.135814308C>T
DNA change (hg38) g.136732149C>T
Published as ARHGEF6(NM_004840.2):c.685G>A (p.V229I, p.(Val229Ile))
ISCN -
DB-ID ARHGEF6_000035 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 -
Methylation -
Average frequency (large NGS studies) 0.00075 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.685G>A r.(?) p.(Val229Ile)