chr1:94546115:A>C Detail (hg19) (ABCA4)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:94,546,115-94,546,115 |
hg38 | chr1:94,080,559-94,080,559 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000350.2:c.1018T>G | NP_000341.2:p.Tyr340Asp |
Ensemble | ENST00000649773.1:c.1018T>G | ENST00000649773.1:p.Tyr340Asp |
ENST00000370225.4:c.1018T>G | ENST00000370225.4:p.Tyr340Asp |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
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.1018T>G (p.Tyr340Asp) AND Severe early-childhood-onset retinal dystrophy | ClinVar | Detail |
NM_000350.3(ABCA4):c.1018T>G (p.Tyr340Asp) AND not provided | 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
- rs61748548 dbSNP
- Genome
- hg19
- Position
- chr1:94,546,115-94,546,115
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
Genome browser