Variant #0000693376 (NC_000023.10:g.135750290C>G, ARHGEF6(NM_004840.2):c.2229G>C)

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.135750290C>G
DNA change (hg38) -
Published as ARHGEF6(NM_004840.2):c.2229G>C (p.L743=)
ISCN -
DB-ID ARHGEF6_000047
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) 0.00011 View details
Owner VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARHGEF6 NM_004840.2 -?/. - c.2229G>C r.(?) p.(Leu743=)