Variant #0000573780 (NC_000023.10:g.135772784T>G, ARHGEF6(NM_004840.2):c.1170A>C)

Chromosome X
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.135772784T>G
DNA change (hg38) g.136690625T>G
Published as -
ISCN -
DB-ID ARHGEF6_000033
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) Variant not found in online data sets
Owner VKGL-NL_Nijmegen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARHGEF6 NM_004840.2 +?/. - c.1170A>C r.(?) p.(Leu390Phe)