Genomic variant #0000572659

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.100871264T>C
DNA change (hg38) -
Published as ARMCX6(NM_001009584.1):c.347A>G (p.(Gln116Arg))
ISCN -
DB-ID ARMCX6_000007
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




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ARMCX6 NM_019007.3 -?/. - c.347A>G likely benign r.(?) p.(Gln116Arg)