Variant #0000394348 (NC_000023.10:g.?, ARMCX4(NM_001256155.1):c.?)
Individual ID |
00173148 |
Chromosome |
X |
Allele |
Parent #1 |
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.? |
DNA change (hg38) |
- |
Published as |
ENSG00000196440 81C>T Y27Y |
ISCN |
- |
DB-ID |
ARMCX4_000000 See all 3 reported entries |
Variant remarks |
recurrent, found 143 times |
Reference |
PubMed: Tarpey 2009 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
143/208 cases |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Genomic location of variant could not be determined |
Owner |
Lucy Raymond |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Variant on transcripts
Screenings
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