chr1:94111579:C>T Detail (hg38) (ABCA4)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:94,577,135-94,577,135 View the variant detail on this assembly version. |
hg38 | chr1:94,111,579-94,111,579 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000350.2:c.161G>A | NP_000341.2:p.Cys54Tyr |
Ensemble | ENST00000370225.4:c.161G>A | ENST00000370225.4:p.Cys54Tyr |
ENST00000649773.1:c.161G>A | ENST00000649773.1:p.Cys54Tyr |
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 |
![]() ![]() |
Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() |
2024-04-01 | criteria provided, multiple submitters, no conflicts | not provided |
![]() ![]() |
Detail |
![]() |
2016-01-01 | criteria provided, multiple submitters, no conflicts | Severe early-childhood-onset retinal dystrophy |
![]() |
Detail |
![]() |
2017-11-22 | criteria provided, single submitter | Stargardt disease |
![]() |
Detail |
![]() |
2024-01-23 | criteria provided, single submitter | ABCA4-related disorder |
![]() |
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.161G>A (p.Cys54Tyr) AND not provided | ClinVar | Detail |
NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr) AND Severe early-childhood-onset retinal dystrophy | ClinVar | Detail |
NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr) AND Stargardt disease | ClinVar | Detail |
NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr) AND ABCA4-related disorder | 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
- rs150774447 dbSNP
- Genome
- hg38
- Position
- chr1:94,111,579-94,111,579
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8636
- 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)
- 121210
- Allele Counts in All Race (ExAC)
- 2
- Heterozygous Counts in All Race (ExAC)
- 2
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.6500288755053215E-5
Genome browser