chr6:64791763:C>T Detail (hg19) (EYS)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr6:64,791,763-64,791,763 |
hg38 | chr6:64,081,870-64,081,870 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001292009.1:c.6557G>A | NP_001278938.1:p.Gly2186Glu |
NM_001142800.1:c.6557G>A | NP_001136272.1:p.Gly2186Glu | |
Ensemble | ENST00000370621.7:c.6557G>A | ENST00000370621.7:p.Gly2186Glu |
Summary
MGeND
Clinical significance |
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Variant entry | 3 |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:<0.001 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:[No Data.] |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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retinitis pigmentosa |
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MGS000009
(TMGS000012) |
Shoji Tsuji | Tokyo University | ||||
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other |
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MGS000001
(TMGS000154) |
Kenjiro Kosaki | Keio University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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no assertion criteria provided | retinitis pigmentosa |
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Detail | |
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2024-01-08 | criteria provided, single submitter | not provided |
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Detail |
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2023-10-01 | criteria provided, multiple submitters, no conflicts | Retinal dystrophy |
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Detail |
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2023-10-19 | criteria provided, single submitter | retinitis pigmentosa 25 |
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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.6557G>A (p.Gly2186Glu) AND Retinitis pigmentosa | ClinVar | Detail |
NM_001142800.2(EYS):c.6557G>A (p.Gly2186Glu) AND not provided | ClinVar | Detail |
NM_001142800.2(EYS):c.6557G>A (p.Gly2186Glu) AND Retinal dystrophy | ClinVar | Detail |
NM_001142800.2(EYS):c.6557G>A (p.Gly2186Glu) 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
- rs527236068 dbSNP
- Genome
- hg19
- Position
- chr6:64,791,763-64,791,763
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs527236068
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0005
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 9
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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