Variant #0000728268 (NC_000023.10:g.101970316A>C, ARMCX5(NM_022838.3):c.*111570A>C)

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.101970316A>C
DNA change (hg38) -
Published as ARMCX5-GPRASP2(NM_001199818.1):c.519A>C (p.(Arg173Ser))
ISCN -
DB-ID GPRASP2_000002 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 -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.01766 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARMCX5-GPRASP2 NM_001199818.1 -?/. - c.519A>C r.(?) p.(Arg173Ser)
GPRASP1 NM_014710.4 -?/. - c.*57287A>C r.(=) p.(=)
ARMCX5 NM_022838.3 -?/. - c.*111570A>C r.(=) p.(=)
GPRASP2 NM_138437.5 -?/. - c.519A>C r.(?) p.(Arg173Ser)