chr7:95750647:G>A Detail (hg19) (SLC25A13)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:95,750,647-95,750,647 |
| hg38 | chr7:96,121,335-96,121,335 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001160210.1:c.1887C>T | NP_001153682.1:p.Asn629= |
| NM_014251.2:c.1887C>T | NP_055066.1:p.Asn629= | |
| NR_027662.1:c.1887C>T |
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 |
Benign
Likely benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2024-01-31 | criteria provided, single submitter | Citrin deficiency |
germline
|
Detail |
|
Likely benign
|
2016-06-14 | criteria provided, single submitter | Citrullinemia type I |
germline
|
Detail |
|
Benign
|
2018-01-13 | criteria provided, single submitter | Citrullinemia type II |
germline
|
Detail |
|
Benign
|
2020-09-16 | no assertion criteria provided | Late-onset citrullinemia |
germline
|
Detail |
|
Benign
|
2020-12-17 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_014251.3(SLC25A13):c.1884C>T (p.Asn628=) AND Citrin deficiency | ClinVar | Detail |
| NM_014251.3(SLC25A13):c.1884C>T (p.Asn628=) AND Citrullinemia type I | ClinVar | Detail |
| NM_014251.3(SLC25A13):c.1884C>T (p.Asn628=) AND Citrullinemia type II | ClinVar | Detail |
| NM_014251.3(SLC25A13):c.1884C>T (p.Asn628=) AND Late-onset citrullinemia | ClinVar | Detail |
| NM_014251.3(SLC25A13):c.1884C>T (p.Asn628=) AND not provided | 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
- rs35539807 dbSNP
- Genome
- hg19
- Position
- chr7:95,750,647-95,750,647
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1206
- Mean of sample read depth (HGVD)
- 57.45
- Standard deviation of sample read depth (HGVD)
- 28.25
- Number of reference allele (HGVD)
- 2411
- Number of alternative allele (HGVD)
- 1
- Allele Frequency (HGVD)
- 4.1459369817578774E-4
- Gene Symbol (HGVD)
- SLC25A13
- East Asian Chromosome Counts (ExAC)
- 8644
- 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)
- 121332
- Allele Counts in All Race (ExAC)
- 963
- Heterozygous Counts in All Race (ExAC)
- 883
- Homozygous Counts in All Race (ExAC)
- 40
- Allele Frequency in All Race (ExAC)
- 0.007936900405498961
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