Variant #0000573801 (NC_000023.10:g.13624612G>A, EGFL6(NM_015507.3):c.635G>A)

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.13624612G>A
DNA change (hg38) g.13606493G>A
Published as EGFL6(NM_001167890.1):c.635G>A (p.(Ser212Asn))
ISCN -
DB-ID EGFL6_000050
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) 1.0E-5 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EGFL6 NM_015507.3 -?/. - c.635G>A r.(?) p.(Ser212Asn)