Variant #0000288746 (NC_000023.10:g.101912524C>T, ARMCX5(NM_022838.3):c.*53778C>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.101912524C>T
DNA change (hg38) g.102657596C>T
Published as GPRASP1(NM_001184727.1):c.3683C>T (p.P1228L)
ISCN -
DB-ID ARMCX5-GPRASP2_000018
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) 2.0E-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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARMCX5-GPRASP2 NM_001199818.1 ?/. - c.-480+51943C>T r.(=) p.(=)
GPRASP1 NM_014710.4 ?/. - c.3683C>T r.(?) p.(Pro1228Leu)
ARMCX5 NM_022838.3 ?/. - c.*53778C>T r.(=) p.(=)
GPRASP2 NM_138437.5 ?/. - c.-55436C>T r.(?) p.(=)