RSPH6A radial spoke head 6 homolog A
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 4 |
Uncertain significance | 0 | 124 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
0 |
![]() |
128 |
![]() |
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
[No Data.]
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 | RSHL1 |
SYNONYM | RSP4 |
SYNONYM | RSP6 |
SYNONYM | RSPH4B |
MIM | 607548 OMIM |
HGNC | HGNC:14241 HGNC |
Ensembl | ENSG00000104941 Ensembl |
AllianceGenome | HGNC:14241 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000600188.5 | hg38 | chr19 | 45,795,713 | 45,810,931 | 15,219 |
ENST00000597055.1 | hg38 | chr19 | 45,795,765 | 45,815,228 | 19,464 |
ENST00000221538.8 | hg38 | chr19 | 45,795,713 | 45,815,308 | 19,596 |
ENST00000600188.5 | hg19 | chr19 | 46,298,971 | 46,314,189 | 15,219 |
ENST00000221538.8 | hg19 | chr19 | 46,298,971 | 46,318,566 | 19,596 |
ENST00000597055.1 | hg19 | chr19 | 46,299,023 | 46,318,486 | 19,464 |
Genome browser