Variant #0000624444 (NC_000023.10:g.13641971C>T, EGFL6(NM_015507.3):c.1212C>T)

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.13641971C>T
DNA change (hg38) g.13623852C>T
Published as EGFL6(NM_001167890.1):c.1215C>T (p.F405=)
ISCN -
DB-ID EGFL6_000053
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) 0.00025 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EGFL6 NM_015507.3 -?/. - c.1212C>T r.(?) p.(Phe404=)