Variant #0000856235 (NC_000023.10:g.101969814T>C, ARMCX5(NM_022838.3):c.*111068T>C)

Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.101969814T>C
DNA change (hg38) -
Published as ARMCX5-GPRASP2(NM_001199818.1):c.17T>C (p.I6T), GPRASP2(NM_001184874.2):c.17T>C (p.I6T)
ISCN -
DB-ID ARMCX5_000034
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) 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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARMCX5-GPRASP2 NM_001199818.1 ?/. - c.17T>C r.(?) p.(Ile6Thr)
GPRASP1 NM_014710.4 ?/. - c.*56785T>C r.(=) p.(=)
ARMCX5 NM_022838.3 ?/. - c.*111068T>C r.(=) p.(=)
GPRASP2 NM_138437.5 ?/. - c.17T>C r.(?) p.(Ile6Thr)