Variant #0000572633 (NC_000023.10:g.100744555A>G, ARMCX4(NM_001256155.1):c.979A>G)

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.100744555A>G
DNA change (hg38) g.101489568A>G
Published as ARMCX4(NM_001256155.2):c.979A>G (p.K327E)
ISCN -
DB-ID ARMCX4_000020
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00052 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARMCX4 NM_001256155.1 -?/. - c.979A>G r.(?) p.(Lys327Glu)