Variant #0000618715 (NC_000023.10:g.101909897A>C, ARMCX5(NM_022838.3):c.*51151A>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.101909897A>C
DNA change (hg38) g.102654969A>C
Published as GPRASP1(NM_001099410.1):c.1056A>C (p.(Lys352Asn))
ISCN -
DB-ID ARMCX5_000020
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) 0.00089 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.-480+49316A>C r.(=) p.(=)
GPRASP1 NM_014710.4 -?/. - c.1056A>C r.(?) p.(Lys352Asn)
ARMCX5 NM_022838.3 -?/. - c.*51151A>C r.(=) p.(=)
GPRASP2 NM_138437.5 -?/. - c.-58063A>C r.(?) p.(=)