chr7:150957485:G>A Detail (hg38) (KCNH2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:150,654,573-150,654,573 View the variant detail on this assembly version. |
| hg38 | chr7:150,957,485-150,957,485 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000238.3:c.934C>T | NP_000229.1:p.Arg312Cys |
| Ensemble | ENST00000262186.10:c.934C>T | ENST00000262186.10:p.Arg312Cys |
| ENST00000713701.1:c.634C>T | ENST00000713701.1:p.Arg212Cys |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:<0.001 |
| ToMMo:<0.001 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
other |
germline
|
MGS000001
(TMGS000178) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
not provided
|
no assertion provided | Congenital long QT syndrome |
germline
|
Detail | |
|
Uncertain significance
|
2024-02-05 | criteria provided, multiple submitters, no conflicts | long QT syndrome |
germline
unknown
|
Detail |
| no classifications from unflagged records | 2023-11-03 | no classifications from unflagged records | Short QT syndrome type 1,long QT syndrome 2 |
unknown
|
Detail |
| no classifications from unflagged records | 2023-11-03 | no classifications from unflagged records | Short QT syndrome type 1,long QT syndrome 2 |
unknown
|
Detail |
|
Uncertain significance
|
2020-08-25 | criteria provided, single submitter | not specified |
germline
|
Detail |
|
Uncertain significance
|
2023-11-29 | criteria provided, single submitter | Cardiac arrhythmia |
germline
|
Detail |
|
Uncertain significance
|
2021-04-29 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Uncertain significance
|
2021-04-05 | criteria provided, single submitter |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.132 | Congenital long QT syndrome | NA | CLINVAR | Detail | |
| 0.388 | long QT syndrome | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000238.4(KCNH2):c.934C>T (p.Arg312Cys) AND Congenital long QT syndrome | ClinVar | Detail |
| NM_000238.4(KCNH2):c.934C>T (p.Arg312Cys) AND Long QT syndrome | ClinVar | Detail |
| NM_000238.4(KCNH2):c.934C>T (p.Arg312Cys) AND multiple conditions | ClinVar | Detail |
| NM_000238.4(KCNH2):c.934C>T (p.Arg312Cys) AND multiple conditions | ClinVar | Detail |
| NM_000238.4(KCNH2):c.934C>T (p.Arg312Cys) AND not specified | ClinVar | Detail |
| NM_000238.4(KCNH2):c.934C>T (p.Arg312Cys) AND Cardiac arrhythmia | ClinVar | Detail |
| NM_000238.4(KCNH2):c.934C>T (p.Arg312Cys) AND not provided | ClinVar | Detail |
| NM_000238.4(KCNH2):c.934C>T (p.Arg312Cys) AND Cardiovascular phenotype | 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
- rs199472885 dbSNP
- Genome
- hg38
- Position
- chr7:150,957,485-150,957,485
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1164
- Mean of sample read depth (HGVD)
- 29.68
- Standard deviation of sample read depth (HGVD)
- 12.92
- Number of reference allele (HGVD)
- 2327
- Number of alternative allele (HGVD)
- 1
- Allele Frequency (HGVD)
- 4.29553264604811E-4
- Gene Symbol (HGVD)
- KCNH2
- 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))
- rs199472885
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0001
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
- East Asian Chromosome Counts (ExAC)
- 8606
- East Asian Allele Counts (ExAC)
- 2
- East Asian Heterozygous Counts (ExAC)
- 2
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 2.3239600278875203E-4
- Chromosome Counts in All Race (ExAC)
- 119722
- Allele Counts in All Race (ExAC)
- 5
- Heterozygous Counts in All Race (ExAC)
- 5
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 4.1763418586391805E-5
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