Variant #0000334952 (NC_000023.10:g.101909463G>A, ARMCX5(NM_022838.3):c.*50717G>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.101909463G>A
DNA change (hg38) g.102654535G>A
Published as GPRASP1(NM_001099411.1):c.622G>A (p.(Glu208Lys))
ISCN -
DB-ID ARMCX5-GPRASP2_000005
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) 0.00013 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.-480+48882G>A r.(=) p.(=)
GPRASP1 NM_014710.4 ?/. - c.622G>A r.(?) p.(Glu208Lys)
ARMCX5 NM_022838.3 ?/. - c.*50717G>A r.(=) p.(=)
GPRASP2 NM_138437.5 ?/. - c.-58497G>A r.(?) p.(=)