chr1:94517254:C>G Detail (hg19) (ABCA4)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:94,517,254-94,517,254 |
hg38 | chr1:94,051,698-94,051,698 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000350.2:c.2588G>C | NP_000341.2:p.Gly863Ala |
Ensemble | ENST00000370225.4:c.2588G>C | ENST00000370225.4:p.Gly863Ala |
ENST00000649773.1:c.2366G>C | ENST00000649773.1:p.Gly789Ala |
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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2023-01-31 | criteria provided, multiple submitters, no conflicts | Severe early-childhood-onset retinal dystrophy |
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Detail |
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2015-10-23 | criteria provided, single submitter | cone-rod dystrophy 3 |
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Detail |
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2024-03-01 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2016-01-01 | criteria provided, single submitter | Severe early-childhood-onset retinal dystrophy |
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Detail |
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2016-01-01 | criteria provided, single submitter | Severe early-childhood-onset retinal dystrophy |
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Detail |
no classifications from unflagged records | 2024-01-02 | no classifications from unflagged records | Peripheral neuropathy |
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Detail |
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2019-08-09 | criteria provided, single submitter | Retinal dystrophy |
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Detail |
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2014-09-11 | criteria provided, single submitter | Inborn genetic diseases |
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Detail |
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2022-08-24 | criteria provided, multiple submitters, no conflicts | Stargardt disease |
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Detail |
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2021-04-01 | criteria provided, single submitter | retinitis pigmentosa |
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Detail |
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2018-04-01 | no assertion criteria provided | cone-rod dystrophy |
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Detail |
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2021-10-04 | no assertion criteria provided | age related macular degeneration 2 |
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Detail |
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2021-01-30 | criteria provided, single submitter | Severe early-childhood-onset retinal dystrophy |
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Detail |
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no assertion provided | retinitis pigmentosa 19,Age-related macular degeneration,cone-rod dystrophy 3 |
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Detail | |
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no assertion provided | retinitis pigmentosa 19,Age-related macular degeneration,cone-rod dystrophy 3 |
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Detail | |
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no assertion provided | retinitis pigmentosa 19,Age-related macular degeneration,cone-rod dystrophy 3 |
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Detail | |
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2023-03-07 | criteria provided, single submitter | retinitis pigmentosa 19 |
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Detail |
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2024-01-18 | 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) | NA | CLINVAR | Detail | |
0.440 | CONE-ROD DYSTROPHY 3 (disorder) | NA | CLINVAR | Detail | |
0.442 | STARGARDT DISEASE 1 (disorder) | A novel mutation in the ABCR gene in four patients with autosomal recessive Star... | UNIPROT | 10612508 | Detail |
0.440 | CONE-ROD DYSTROPHY 3 (disorder) | A novel mutation in the ABCR gene in four patients with autosomal recessive Star... | UNIPROT | 10612508 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) AND Severe early-childhood-onset retinal dystrophy | ClinVar | Detail |
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) AND Cone-rod dystrophy 3 | ClinVar | Detail |
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) AND not provided | ClinVar | Detail |
NM_000350.2(ABCA4):c.[2588G>C;5153T>G] AND Severe early-childhood-onset retinal dystrophy | ClinVar | Detail |
NM_000350.2(ABCA4):c.[2588G>C;3289A>T] AND Severe early-childhood-onset retinal dystrophy | ClinVar | Detail |
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) AND multiple conditions | ClinVar | Detail |
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) AND Retinal dystrophy | ClinVar | Detail |
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) AND Inborn genetic diseases | ClinVar | Detail |
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) AND Stargardt disease | ClinVar | Detail |
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) AND Retinitis pigmentosa | ClinVar | Detail |
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) AND Cone-rod dystrophy | ClinVar | Detail |
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) AND Age related macular degeneration 2 | ClinVar | Detail |
NM_000350.3(ABCA4):c.[2588G>C;5603A>T] AND Severe early-childhood-onset retinal dystrophy | ClinVar | Detail |
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) AND multiple conditions | ClinVar | Detail |
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) AND multiple conditions | ClinVar | Detail |
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) AND multiple conditions | ClinVar | Detail |
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) AND Retinitis pigmentosa 19 | ClinVar | Detail |
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) AND ABCA4-related disorder | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease. | DisGeNET | Detail |
A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease. | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs76157638 dbSNP
- Genome
- hg19
- Position
- chr1:94,517,254-94,517,254
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 8428
- 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)
- 118484
- Allele Counts in All Race (ExAC)
- 601
- Heterozygous Counts in All Race (ExAC)
- 597
- Homozygous Counts in All Race (ExAC)
- 2
- Allele Frequency in All Race (ExAC)
- 0.00507241484082239
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