Variant #0000618716 (NC_000023.10:g.101970954T>C, ARMCX5(NM_022838.3):c.*112208T>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.101970954T>C
DNA change (hg38) g.102716026T>C
Published as GPRASP2(NM_001184874.2):c.1157T>C (p.I386T)
ISCN -
DB-ID ARMCX5_000023
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) 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.1157T>C r.(?) p.(Ile386Thr)
GPRASP1 NM_014710.4 ?/. - c.*57925T>C r.(=) p.(=)
ARMCX5 NM_022838.3 ?/. - c.*112208T>C r.(=) p.(=)
BHLHB9 NM_030639.2 ?/. - c.-5228T>C r.(?) p.(=)
GPRASP2 NM_138437.5 ?/. - c.1157T>C r.(?) p.(Ile386Thr)