chr6:64488004:C>T Detail (hg19) (EYS)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr6:64,488,004-64,488,004 |
hg38 | chr6:63,778,111-63,778,111 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001292009.1:c.7793G>A | NP_001278938.1:p.Gly2598Asp |
NM_001142800.1:c.7793G>A | NP_001136272.1:p.Gly2598Asp | |
Ensemble | ENST00000370621.7:c.7793G>A | ENST00000370621.7:p.Gly2598Asp |
Summary
MGeND
Clinical significance |
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Variant entry | 1 |
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 |
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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2023-07-27 | criteria provided, single submitter | not specified |
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Detail |
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2023-10-01 | criteria provided, single submitter | Retinal dystrophy |
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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.7793G>A (p.Gly2598Asp) AND Retinitis pigmentosa | ClinVar | Detail |
NM_001142800.2(EYS):c.7793G>A (p.Gly2598Asp) AND not specified | ClinVar | Detail |
NM_001142800.2(EYS):c.7793G>A (p.Gly2598Asp) AND Retinal dystrophy | 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
- rs527236064 dbSNP
- Genome
- hg19
- Position
- chr6:64,488,004-64,488,004
- 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))
- rs527236064
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0003
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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