Variant #0000681982 (NC_000023.10:g.101912807del, ARMCX5(NM_022838.3):c.*54061del)

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.101912807del
DNA change (hg38) -
Published as GPRASP1(NM_001099410.1):c.3966del (p.(Phe1322Leufs*2))
ISCN -
DB-ID ARMCX5_000024
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) 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
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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+52226del r.(=) p.(=)
GPRASP1 NM_014710.4 ?/. - c.3966del r.(?) p.(Phe1322LeufsTer2)
ARMCX5 NM_022838.3 ?/. - c.*54061del r.(?) p.(=)
GPRASP2 NM_138437.5 ?/. - c.-55153del r.(?) p.(=)