Variant #0000254952 (NC_000023.10:g.101910624A>G, ARMCX5(NM_022838.3):c.*51878A>G)

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.101910624A>G
DNA change (hg38) g.102655696A>G
Published as GPRASP1(NM_001099410.1):c.1783A>G (p.(Arg595Gly)), GPRASP1(NM_001184727.1):c.1783A>G (p.R595G)
ISCN -
DB-ID ARMCX5-GPRASP2_000012 See all 2 reported entries
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) 0.00021 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+50043A>G r.(=) p.(=)
GPRASP1 NM_014710.4 -?/. - c.1783A>G r.(?) p.(Arg595Gly)
ARMCX5 NM_022838.3 -?/. - c.*51878A>G r.(=) p.(=)
GPRASP2 NM_138437.5 -?/. - c.-57336A>G r.(?) p.(=)