chr8:106814279:A>G Detail (hg19) (ZFPM2, ZFPM2-AS1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr8:106,814,279-106,814,279 |
hg38 | chr8:105,802,051-105,802,051 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_012082.3:c.1969A>G | NP_036214.2:p.Ser657Gly |
Ensemble | ENST00000407775.7:c.1969A>G | ENST00000407775.7:p.Ser657Gly |
ENST00000517361.1:c.1573A>G | ENST00000517361.1:p.Ser525Gly |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:<0.001 |
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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2003-11-01 | no assertion criteria provided | tetralogy of Fallot |
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Detail |
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2024-01-29 | criteria provided, multiple submitters, no conflicts | 46,XY sex reversal 9 |
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Detail |
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2023-04-10 | criteria provided, single submitter | not specified |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.562 | tetralogy of Fallot | Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot. | UNIPROT | 14517948 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_012082.4(ZFPM2):c.1969A>G (p.Ser657Gly) AND Tetralogy of Fallot | ClinVar | Detail |
NM_012082.4(ZFPM2):c.1969A>G (p.Ser657Gly) AND 46,XY sex reversal 9 | ClinVar | Detail |
NM_012082.4(ZFPM2):c.1969A>G (p.Ser657Gly) AND not specified | ClinVar | Detail |
Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot. | 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
- rs28374544 dbSNP
- Genome
- hg19
- Position
- chr8:106,814,279-106,814,279
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 181.51
- Standard deviation of sample read depth (HGVD)
- 83.36
- Number of reference allele (HGVD)
- 2419
- Number of alternative allele (HGVD)
- 1
- Allele Frequency (HGVD)
- 4.1322314049586776E-4
- Gene Symbol (HGVD)
- ZFPM2
- East Asian Chromosome Counts (ExAC)
- 8490
- 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)
- 119554
- Allele Counts in All Race (ExAC)
- 1504
- Heterozygous Counts in All Race (ExAC)
- 1328
- Homozygous Counts in All Race (ExAC)
- 88
- Allele Frequency in All Race (ExAC)
- 0.012580089332017331
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