chr11:2608811:G>T Detail (hg19) (KCNQ1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr11:2,608,811-2,608,811 |
hg38 | chr11:2,587,581-2,587,581 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000218.2:c.1140G>T | NP_000209.2:p.Arg380Ser |
NM_181798.1:c.759G>T | NP_861463.1:p.Arg253Ser | |
Ensemble | ENST00000496887.7:c.783G>T | ENST00000496887.7:p.Arg261Ser |
Summary
MGeND
Clinical significance | |
Variant entry | |
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
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2023-06-14 | criteria provided, single submitter | long QT syndrome |
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Detail |
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no assertion provided | Congenital long QT syndrome |
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Detail | |
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2019-03-20 | criteria provided, single submitter |
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Detail | |
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2023-08-01 | criteria provided, single submitter | long QT syndrome 1 |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.417 | long QT syndrome | NA | CLINVAR | Detail | |
0.133 | Congenital long QT syndrome | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000218.3(KCNQ1):c.1140G>T (p.Arg380Ser) AND Long QT syndrome | ClinVar | Detail |
NM_000218.3(KCNQ1):c.1140G>T (p.Arg380Ser) AND Congenital long QT syndrome | ClinVar | Detail |
NM_000218.3(KCNQ1):c.1140G>T (p.Arg380Ser) AND Cardiovascular phenotype | ClinVar | Detail |
NM_000218.3(KCNQ1):c.1140G>T (p.Arg380Ser) AND Long QT syndrome 1 | ClinVar | Detail |
NA | DisGeNET | 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
- rs199472771 dbSNP
- Genome
- hg19
- Position
- chr11:2,608,811-2,608,811
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
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