Variant #0000624443 (NC_000023.10:g.13621549T>C, EGFL6(NM_015507.3):c.514T>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.13621549T>C
DNA change (hg38) g.13603430T>C
Published as EGFL6(NM_001167890.1):c.514T>C (p.C172R)
ISCN -
DB-ID EGFL6_000052
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) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EGFL6 NM_015507.3 ?/. - c.514T>C r.(?) p.(Cys172Arg)