chr6:66044889:C>A Detail (hg19) (EYS)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr6:66,044,889-66,044,889 |
hg38 | chr6:65,334,996-65,334,996 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001292009.1:c.1750G>T | NP_001278938.1:p.Glu584Ter |
NM_198283.1:c.1750G>T | NP_938024.1:p.Glu584Ter | |
NM_001142801.1:c.1750G>T | NP_001136273.1:p.Glu584Ter |
Summary
MGeND
Clinical significance |
![]() |
Variant entry | 1 |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
![]() |
retinitis pigmentosa |
![]() |
MGS000009
(TMGS000012) |
Shoji Tsuji | Tokyo University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() |
no assertion criteria provided | retinitis pigmentosa |
![]() |
Detail | |
![]() |
2023-03-18 | criteria provided, single submitter | not provided |
![]() |
Detail |
![]() |
2023-04-07 | criteria provided, single submitter | retinitis pigmentosa 25 |
![]() |
Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.370 | retinitis pigmentosa | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001142800.2(EYS):c.1750G>T (p.Glu584Ter) AND Retinitis pigmentosa | ClinVar | Detail |
NM_001142800.2(EYS):c.1750G>T (p.Glu584Ter) AND not provided | ClinVar | Detail |
NM_001142800.2(EYS):c.1750G>T (p.Glu584Ter) AND Retinitis pigmentosa 25 | ClinVar | Detail |
NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
---|
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs527236072 dbSNP
- Genome
- hg19
- Position
- chr6:66,044,889-66,044,889
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
Genome browser