Variant #0000288747 (NC_000023.10:g.101971957G>A, ARMCX5(NM_022838.3):c.*113211G>A)

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.101971957G>A
DNA change (hg38) g.102717029G>A
Published as GPRASP2(NM_001184874.2):c.2160G>A (p.M720I)
ISCN -
DB-ID ARMCX5-GPRASP2_000024
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) 5.0E-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.2160G>A r.(?) p.(Met720Ile)
GPRASP1 NM_014710.4 -?/. - c.*58928G>A r.(=) p.(=)
ARMCX5 NM_022838.3 -?/. - c.*113211G>A r.(=) p.(=)
BHLHB9 NM_030639.2 -?/. - c.-4225G>A r.(?) p.(=)
GPRASP2 NM_138437.5 -?/. - c.2160G>A r.(?) p.(Met720Ile)