chr19:54939626:A>C Detail (hg38) (NLRP7)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr19:55,450,994-55,450,994 View the variant detail on this assembly version. |
hg38 | chr19:54,939,626-54,939,626 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001127255.1:c.1193T>G | NP_631915.2:p.Leu398Arg |
NM_139176.3:c.1193T>G | NP_631915.2:p.Leu398Arg | |
Ensemble | ENST00000328092.9:c.1193T>G | ENST00000328092.9:p.Leu398Arg |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:[No Data.] | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:<0.001 |
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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2009-08-01 | no assertion criteria provided | Hydatidiform mole, recurrent, 1 |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.120 | Gestational trophoblastic disease | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001127255.2(NLRP7):c.1193T>G (p.Leu398Arg) AND Hydatidiform mole, recurrent, 1 | 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
- rs104895548 dbSNP
- Genome
- hg38
- Position
- chr19:54,939,626-54,939,626
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
- East Asian Chromosome Counts (ExAC)
- 6724
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 94454
- Allele Counts in All Race (ExAC)
- 4
- Heterozygous Counts in All Race (ExAC)
- 4
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 4.234865648887289E-5
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