chr1:94047010:G>A Detail (hg38) (ABCA4)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:94,512,566-94,512,566 View the variant detail on this assembly version. |
hg38 | chr1:94,047,010-94,047,010 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000350.2:c.2827C>T | NP_000341.2:p.Arg943Trp |
Ensemble | ENST00000370225.4:c.2827C>T | ENST00000370225.4:p.Arg943Trp |
ENST00000649773.1:c.2605C>T | ENST00000649773.1:p.Arg869Trp |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:<0.001 | |
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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2024-01-20 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
no classifications from unflagged records | 2023-07-22 | no classifications from unflagged records | Retinal dystrophy |
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Detail |
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2023-08-03 | criteria provided, single submitter | Stargardt disease |
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Detail |
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2022-10-07 | criteria provided, single submitter | ABCA4-related disorder |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.442 | STARGARDT DISEASE 1 (disorder) | In addition, we report three new pseudodominant families that now comprise eight... | UNIPROT | 11379881 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000350.3(ABCA4):c.2827C>T (p.Arg943Trp) AND not provided | ClinVar | Detail |
NM_000350.3(ABCA4):c.2827C>T (p.Arg943Trp) AND Retinal dystrophy | ClinVar | Detail |
NM_000350.3(ABCA4):c.2827C>T (p.Arg943Trp) AND Stargardt disease | ClinVar | Detail |
NM_000350.3(ABCA4):c.2827C>T (p.Arg943Trp) AND ABCA4-related disorder | ClinVar | Detail |
In addition, we report three new pseudodominant families that now comprise eight of 178 outbred STGD... | 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
- rs61749446 dbSNP
- Genome
- hg38
- Position
- chr1:94,047,010-94,047,010
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- 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))
- rs61749446
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0002
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 3
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8644
- East Asian Allele Counts (ExAC)
- 2
- East Asian Heterozygous Counts (ExAC)
- 2
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 2.3137436372049977E-4
- Chromosome Counts in All Race (ExAC)
- 121172
- Allele Counts in All Race (ExAC)
- 6
- Heterozygous Counts in All Race (ExAC)
- 6
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 4.9516389925065196E-5
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