SELENON selenoprotein N
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 1 | 144 |
Likely pathogenic | 0 | 68 |
Benign | 0 | 126 |
Likely benign | 0 | 444 |
Conflicting classifications of pathogenicity | 0 | 74 |
Uncertain significance | 0 | 540 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
272 |
![]() |
974 |
![]() |
10 |
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 | CFTD |
SYNONYM | CMYP3 |
SYNONYM | MDRS1 |
SYNONYM | RSMD1 |
SYNONYM | RSS |
SYNONYM | SELN |
SYNONYM | SEPN1 |
MIM | 606210 OMIM |
HGNC | HGNC:15999 HGNC |
Ensembl | ENSG00000162430 Ensembl |
AllianceGenome | HGNC:15999 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000374315.1 | hg38 | chr1 | 25,800,193 | 25,818,221 | 18,029 |
ENST00000361547.7 | hg38 | chr1 | 25,800,193 | 25,818,221 | 18,029 |
ENST00000354177.9 | hg38 | chr1 | 25,800,231 | 25,815,718 | 15,488 |
ENST00000361547.7 | hg19 | chr1 | 26,126,684 | 26,144,712 | 18,029 |
ENST00000374315.1 | hg19 | chr1 | 26,126,684 | 26,144,712 | 18,029 |
ENST00000354177.9 | hg19 | chr1 | 26,126,722 | 26,142,209 | 15,488 |
Genome browser