Variant #0000262977 (NC_000023.10:g.101858340T>A, ARMCX5(NM_022838.3):c.1271T>A)

Chromosome X
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.101858340T>A
DNA change (hg38) g.102603412T>A
Published as ARMCX5(NM_001168479.1):c.1271T>A (p.F424Y)
ISCN -
DB-ID ARMCX5_000004
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) 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.-652+1903T>A r.(=) p.(=)
GPRASP1 NM_014710.4 -/. - c.-48755T>A r.(?) p.(=)
ARMCX5 NM_022838.3 -/. - c.1271T>A r.(?) p.(Phe424Tyr)
GPRASP2 NM_138437.5 -/. - c.-109620T>A r.(?) p.(=)