chr1:40310285:T>C Detail (hg19) (TRIT1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:40,310,285-40,310,285 |
hg38 | chr1:39,844,613-39,844,613 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001312691.1:c.956A>G | NP_001299620.1:p.Tyr319Cys |
NM_017646.5:c.1034A>G | NP_060116.2:p.Tyr345Cys | |
NR_132401.1:c.1034A>G |
Summary
MGeND
Clinical significance |
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Variant entry | 1 |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[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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other |
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MGS000001
(TMGS000138) |
Kenjiro Kosaki | Keio University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2022-05-04 | criteria provided, single submitter | combined oxidative phosphorylation deficiency 35 |
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Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_017646.6(TRIT1):c.1034A>G (p.Tyr345Cys) AND Combined oxidative phosphorylation deficiency 35 | ClinVar | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
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- Gene
- -
- dbSNP
- rs2124577339 dbSNP
- Genome
- hg19
- Position
- chr1:40,310,285-40,310,285
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
Genome browser