Variant #0000728267 (NC_000023.10:g.101911224G>C, ARMCX5(NM_022838.3):c.*52478G>C)

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.101911224G>C
DNA change (hg38) -
Published as GPRASP1(NM_001184727.1):c.2383G>C (p.A795P)
ISCN -
DB-ID ARMCX5_000027
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_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+50643G>C r.(=) p.(=)
GPRASP1 NM_014710.4 ?/. - c.2383G>C r.(?) p.(Ala795Pro)
ARMCX5 NM_022838.3 ?/. - c.*52478G>C r.(=) p.(=)
GPRASP2 NM_138437.5 ?/. - c.-56736G>C r.(?) p.(=)