chr3:193614982:TTAAAACTTC> Detail (hg38) (OPA1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:193,332,771-193,332,780 |
hg38 | chr3:193,614,982-193,614,991 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_130831.2:c.292_301delTTAAAACTTC | NP_570844.1:p.Leu98AlafsTer5 |
NM_130833.2:c.292_301delTTAAAACTTC | NP_570846.1:p.Leu98AlafsTer5 | |
NM_130837.2:c.292_301delTTAAAACTTC | NP_570850.2:p.Leu98AlafsTer5 |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2014-10-06 | criteria provided, single submitter | not provided |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.526 | Optic Atrophy, Autosomal Dominant | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_130837.3(OPA1):c.292_301del (p.Leu98fs) AND not provided | 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
- rs794727289 dbSNP
- Genome
- hg38
- Position
- chr3:193,614,982-193,614,991
- Variant Type
- snv
- Reference Allele
- TTAAAACTTC
- Alternative Allele
- -
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