Variant #0000400881 (NC_000023.10:g.100911066C>T, NM_177949.2:c.1509G>A (ARMCX2))

Individual ID 00173224
Chromosome X
Allele Parent #1
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.100911066C>T
DNA change (hg38) g.101656080=
Published as Q503Q
ISCN -
DB-ID ARMCX2_000001 See all 3 reported entries
Variant remarks recurrent, found 54 times
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 54/208 cases
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.94237 View details
Owner Lucy Raymond
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2009-04-08 13:58:13 +02:00 (CEST)
Date last edited 2009-05-19 12:34:20 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARMCX2 NM_177949.2 -?/. 5 c.1509G>A r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000174107 DNA SEQ - - ARMCX6 1 Lucy Raymond


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