chr17:41611492:A>G Detail (hg38) (KRT16)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:39,767,744-39,767,744 View the variant detail on this assembly version. |
| hg38 | chr17:41,611,492-41,611,492 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_005557.3:c.624T>C | NP_005548.2:p.His208= |
| Ensemble | ENST00000301653.9:c.624T>C | ENST00000301653.9:p.His208= |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.998 |
| ToMMo:1.000 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.999 |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2024-01-29 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Benign
|
2021-08-19 | criteria provided, single submitter | Pachyonychia congenita 1 |
germline
|
Detail |
|
Benign
|
2021-08-19 | criteria provided, single submitter | Palmoplantar keratoderma, nonepidermolytic, focal 1 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_005557.4(KRT16):c.624T>C (p.His208=) AND not provided | ClinVar | Detail |
| NM_005557.4(KRT16):c.624T>C (p.His208=) AND Pachyonychia congenita 1 | ClinVar | Detail |
| NM_005557.4(KRT16):c.624T>C (p.His208=) AND Palmoplantar keratoderma, nonepidermolytic, focal 1 | ClinVar | 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
- rs4796681 dbSNP
- Genome
- hg38
- Position
- chr17:41,611,492-41,611,492
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1116
- Mean of sample read depth (HGVD)
- 15.90
- Standard deviation of sample read depth (HGVD)
- 12.48
- Number of reference allele (HGVD)
- 5
- Number of alternative allele (HGVD)
- 2227
- Allele Frequency (HGVD)
- 0.9977598566308243
- Gene Symbol (HGVD)
- KRT16
- 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))
- rs4796681
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.9999
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16759
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8652
- East Asian Allele Counts (ExAC)
- 8640
- East Asian Heterozygous Counts (ExAC)
- 12
- East Asian Homozygous Counts (ExAC)
- 4314
- East Asian Allele Frequency (ExAC)
- 0.9986130374479889
- Chromosome Counts in All Race (ExAC)
- 121204
- Allele Counts in All Race (ExAC)
- 82818
- Heterozygous Counts in All Race (ExAC)
- 24410
- Homozygous Counts in All Race (ExAC)
- 29204
- Allele Frequency in All Race (ExAC)
- 0.683294280716808
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