chr1:94041367:C>T Detail (hg38) (ABCA4)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:94,506,923-94,506,923 View the variant detail on this assembly version. |
| hg38 | chr1:94,041,367-94,041,367 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000350.2:c.3364G>A | NP_000341.2:p.Glu1122Lys |
| Ensemble | ENST00000370225.4:c.3364G>A | ENST00000370225.4:p.Glu1122Lys |
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 |
Pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
Likely pathogenic
|
2015-01-01 | no assertion criteria provided | Severe early-childhood-onset retinal dystrophy |
germline
unknown
|
Detail |
|
Pathogenic
|
2023-12-10 | criteria provided, multiple submitters, no conflicts | not provided |
germline
not provided
|
Detail |
|
Likely pathogenic
|
2015-01-01 | no assertion criteria provided | retinitis pigmentosa |
unknown
|
Detail |
|
Pathogenic
|
2019-06-28 | criteria provided, single submitter | Retinal dystrophy |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.442 | STARGARDT DISEASE 1 (disorder) | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys) AND Severe early-childhood-onset retinal dystrophy | ClinVar | Detail |
| NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys) AND not provided | ClinVar | Detail |
| NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys) AND Retinitis pigmentosa | ClinVar | Detail |
| NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys) AND Retinal dystrophy | 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
- rs61751399 dbSNP
- Genome
- hg38
- Position
- chr1:94,041,367-94,041,367
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- Filtering Status (HGVD)
- LowQual
- # of samples (HGVD)
- 1182
- Mean of sample read depth (HGVD)
- 32.49
- Standard deviation of sample read depth (HGVD)
- 13.72
- Number of reference allele (HGVD)
- 2363
- Number of alternative allele (HGVD)
- 1
- Allele Frequency (HGVD)
- 4.2301184433164127E-4
- Gene Symbol (HGVD)
- ABCA4
- East Asian Chromosome Counts (ExAC)
- 8654
- 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)
- 121394
- Allele Counts in All Race (ExAC)
- 3
- Heterozygous Counts in All Race (ExAC)
- 3
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 2.4712918266141653E-5
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