Variant #0000334948 (NC_000023.10:g.101857558T>G, ARMCX5(NM_022838.3):c.489T>G)

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.101857558T>G
DNA change (hg38) g.102602630T>G
Published as ARMCX5(NM_001168478.1):c.489T>G (p.(Ser163Arg))
ISCN -
DB-ID ARMCX5_000002
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) 0.00014 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARMCX5-GPRASP2 NM_001199818.1 ?/. - c.-652+1121T>G r.(=) p.(=)
GPRASP1 NM_014710.4 ?/. - c.-49537T>G r.(?) p.(=)
ARMCX5 NM_022838.3 ?/. - c.489T>G r.(?) p.(Ser163Arg)
GPRASP2 NM_138437.5 ?/. - c.-110402T>G r.(?) p.(=)