EGFL6 EGF like domain multiple 6
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 12 |
Likely benign | 0 | 10 |
not provided | 7 | 0 |
Uncertain significance | 0 | 50 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
2 |
![]() |
70 |
![]() |
0 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data | : |
MGeND data only
|
Category | : |
|
Search word | : | |
Filtering | : |
Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
Search Word
Target data | : |
MGeND data only
|
Category | : |
|
Search word | : | |
Filtering | : |
Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
|
Category | : |
|
Search word | : | |
Filtering | : |
Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | MAEG |
SYNONYM | W80 |
MIM | 300239 OMIM |
HGNC | HGNC:3235 HGNC |
Ensembl | ENSG00000198759 Ensembl |
AllianceGenome | HGNC:3235 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000361306.6 | hg38 | chrX | 13,569,601 | 13,633,575 | 63,975 |
ENST00000380602.3 | hg38 | chrX | 13,569,622 | 13,633,575 | 63,954 |
ENST00000361306.6 | hg19 | chrX | 13,587,720 | 13,651,694 | 63,975 |
ENST00000380602.3 | hg19 | chrX | 13,587,741 | 13,651,694 | 63,954 |
Genome browser