Variant #0000866941 (NC_000023.10:g.101912505C>T, ARMCX5(NM_022838.3):c.*53759C>T)

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.101912505C>T
DNA change (hg38) -
Published as GPRASP1(NM_001184727.1):c.3664C>T (p.R1222C)
ISCN -
DB-ID ARMCX5_000033
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) 1.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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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+51924C>T r.(=) p.(=)
GPRASP1 NM_014710.4 ?/. - c.3664C>T r.(?) p.(Arg1222Cys)
ARMCX5 NM_022838.3 ?/. - c.*53759C>T r.(=) p.(=)
GPRASP2 NM_138437.5 ?/. - c.-55455C>T r.(?) p.(=)