chr1:94528666:A>C Detail (hg19) (ABCA4)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:94,528,666-94,528,666 |
hg38 | chr1:94,063,110-94,063,110 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000350.2:c.1760+2T>G | |
Ensemble | ENST00000370225.4:c.1760+2T>G | |
ENST00000649773.1:c.1760+2T>G |
Summary
MGeND
Clinical significance |
![]() |
Variant entry | 1 |
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:[No Data.] |
Prediction
ClinVar
Clinical Significance |
![]() |
Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
![]() |
Stargardt Disease |
![]() |
MGS000009
(TMGS000012) |
Shoji Tsuji | Tokyo University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() |
2023-08-25 | criteria provided, single submitter | not provided |
![]() ![]() |
Detail |
![]() |
no assertion criteria provided | Severe early-childhood-onset retinal dystrophy |
![]() |
Detail | |
![]() |
2023-10-01 | criteria provided, single submitter | Retinal dystrophy |
![]() |
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.1760+2T>G AND not provided | ClinVar | Detail |
NM_000350.3(ABCA4):c.1760+2T>G AND Severe early-childhood-onset retinal dystrophy | ClinVar | Detail |
NM_000350.3(ABCA4):c.1760+2T>G AND Retinal dystrophy | ClinVar | Detail |
NA | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs61751385 dbSNP
- Genome
- hg19
- Position
- chr1:94,528,666-94,528,666
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
- 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))
- rs61751385
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0007
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 12
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
Genome browser