Variant #0000572711 (NC_000023.10:g.101911213T>C, ARMCX5(NM_022838.3):c.*52467T>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.101911213T>C
DNA change (hg38) g.102656285T>C
Published as GPRASP1(NM_001099410.1):c.2372T>C (p.(Leu791Pro))
ISCN -
DB-ID ARMCX5_000013
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) 0.00036 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+50632T>C r.(=) p.(=)
GPRASP1 NM_014710.4 -?/. - c.2372T>C r.(?) p.(Leu791Pro)
ARMCX5 NM_022838.3 -?/. - c.*52467T>C r.(=) p.(=)
GPRASP2 NM_138437.5 -?/. - c.-56747T>C r.(?) p.(=)