Variant #0000393498 (NC_000023.10:g.13651155G>A, EGFL6(NM_015507.3):c.1603G>A)

Individual ID 00172756
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.13651155G>A
DNA change (hg38) g.13633036G>A
Published as -
ISCN -
DB-ID EGFL6_000048 See all 2 reported entries
Variant remarks recurrent, found 2 times
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 2/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0347 View details
Owner Lucy Raymond
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EGFL6 NM_015507.3 ?/. - c.1603G>A r.(?) p.(Asp535Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000173639 DNA SEQ - - WWC3 1 Lucy Raymond