chr16:31202748:A>T Detail (hg19) (FUS)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr16:31,202,748-31,202,748 |
hg38 | chr16:31,191,427-31,191,427 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001170634.1:c.1567A>T | NP_001164105.1:p.Arg523Trp |
NM_001170937.1:c.1570A>T | NP_001164408.1:p.Arg524Trp | |
NM_004960.3:c.1570A>T | NP_004951.1:p.Arg524Trp |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
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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2010-04-01 | no assertion criteria provided | amyotrophic lateral sclerosis type 6 |
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Detail |
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2023-03-24 | criteria provided, single submitter | amyotrophic lateral sclerosis type 6,Tremor, hereditary essential, 4 |
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Detail |
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2023-03-24 | criteria provided, single submitter | amyotrophic lateral sclerosis type 6,Tremor, hereditary essential, 4 |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.240 | AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_004960.4(FUS):c.1570A>T (p.Arg524Trp) AND Amyotrophic lateral sclerosis type 6 | ClinVar | Detail |
NM_004960.4(FUS):c.1570A>T (p.Arg524Trp) AND multiple conditions | ClinVar | Detail |
NM_004960.4(FUS):c.1570A>T (p.Arg524Trp) AND multiple conditions | 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
- rs267606833 dbSNP
- Genome
- hg19
- Position
- chr16:31,202,748-31,202,748
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- T
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