Variant #0000334915 (NC_000023.10:g.100749088G>A, ARMCX4(NM_001256155.1):c.5512G>A)

Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.100749088G>A
DNA change (hg38) g.101494101G>A
Published as ARMCX4(NM_001256155.1):c.5512G>A (p.(Gly1838Arg))
ISCN -
DB-ID ARMCX4_000016
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARMCX4 NM_001256155.1 ?/. - c.5512G>A r.(?) p.(Gly1838Arg)