chr14:73198094:G>T Detail (hg38) (PSEN1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr14:73,664,802-73,664,802 View the variant detail on this assembly version. |
hg38 | chr14:73,198,094-73,198,094 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000021.3:c.833G>T | NP_000012.1:p.Arg278Ile |
NM_007318.2:c.833G>T | NP_015557.2:p.Arg278Ile | |
Ensemble | ENST00000324501.10:c.833G>T | ENST00000324501.10:p.Arg278Ile |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2004-11-09 | no assertion criteria provided | Alzheimer disease 3 |
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Detail |
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no assertion provided | not provided |
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Detail | |
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2022-06-25 | criteria provided, single submitter | Alzheimer disease 3,Acne inversa, familial, 3,frontotemporal dementia,Pick disease |
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Detail |
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2022-06-25 | criteria provided, single submitter | Alzheimer disease 3,Acne inversa, familial, 3,frontotemporal dementia,Pick disease |
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Detail |
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2022-06-25 | criteria provided, single submitter | Alzheimer disease 3,Acne inversa, familial, 3,frontotemporal dementia,Pick disease |
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Detail |
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2022-06-25 | criteria provided, single submitter | Alzheimer disease 3,Acne inversa, familial, 3,frontotemporal dementia,Pick disease |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.320 | Alzheimer disease, familial, type 3 | NA | CLINVAR | Detail | |
<0.001 | Language Disorders | A presenilin 1 R278I mutation presenting with language impairment. | BeFree | 15534260 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000021.4(PSEN1):c.833G>T (p.Arg278Ile) AND Alzheimer disease 3 | ClinVar | Detail |
NM_000021.4(PSEN1):c.833G>T (p.Arg278Ile) AND not provided | ClinVar | Detail |
NM_000021.4(PSEN1):c.833G>T (p.Arg278Ile) AND multiple conditions | ClinVar | Detail |
NM_000021.4(PSEN1):c.833G>T (p.Arg278Ile) AND multiple conditions | ClinVar | Detail |
NM_000021.4(PSEN1):c.833G>T (p.Arg278Ile) AND multiple conditions | ClinVar | Detail |
NM_000021.4(PSEN1):c.833G>T (p.Arg278Ile) AND multiple conditions | ClinVar | Detail |
NA | DisGeNET | Detail |
A presenilin 1 R278I mutation presenting with language impairment. | 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
- rs63749891 dbSNP
- Genome
- hg38
- Position
- chr14:73,198,094-73,198,094
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
Genome browser