RPL35A ribosomal protein L35a
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 2 | 12 |
Likely pathogenic | 0 | 6 |
Benign | 6 | 22 |
Likely benign | 0 | 96 |
Conflicting classifications of pathogenicity | 0 | 4 |
Uncertain significance | 0 | 86 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
28 |
![]() |
180 |
![]() |
4 |
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 | DBA5 |
SYNONYM | L35A |
SYNONYM | eL33 |
MIM | 180468 OMIM |
HGNC | HGNC:10345 HGNC |
Ensembl | ENSG00000182899 Ensembl |
AllianceGenome | HGNC:10345 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000647248.2 | hg38 | chr3 | 197,950,190 | 197,956,610 | 6,421 |
ENST00000448864.6 | hg38 | chr3 | 197,950,190 | 197,955,851 | 5,662 |
ENST00000448864.6 | hg19 | chr3 | 197,677,061 | 197,682,722 | 5,662 |
ENST00000647248.2 | hg19 | chr3 | 197,677,061 | 197,683,481 | 6,421 |
Genome browser