chr16:2085001:ACAA> Detail (hg38) (TSC2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr16:2,135,002-2,135,005 |
hg38 | chr16:2,085,001-2,085,004 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000548.4:c.4544_4547delACAA | NP_000539.2:p.Asn1515SerfsTer60 |
NM_001114382.2:c.4475_4478delACAA | NP_001107854.1:p.Asn1492SerfsTer60 | |
NM_001318829.1:c.4199_4202delACAA | NP_001305758.1:p.Asn1400SerfsTer60 |
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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no assertion provided | Tuberous sclerosis syndrome |
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Detail | |
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2023-09-15 | criteria provided, multiple submitters, no conflicts | tuberous sclerosis 2 |
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Detail |
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2023-02-21 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2017-10-03 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.441 | TUBEROUS SCLEROSIS 2 (disorder) | NA | CLINVAR | Detail | |
0.494 | tuberous sclerosis | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000548.5(TSC2):c.4544_4547del (p.Asn1515fs) AND Tuberous sclerosis syndrome | ClinVar | Detail |
NM_000548.5(TSC2):c.4544_4547del (p.Asn1515fs) AND Tuberous sclerosis 2 | ClinVar | Detail |
NM_000548.5(TSC2):c.4544_4547del (p.Asn1515fs) AND not provided | ClinVar | Detail |
NM_000548.5(TSC2):c.4544_4547del (p.Asn1515fs) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs137854175 dbSNP
- Genome
- hg38
- Position
- chr16:2,085,001-2,085,004
- Variant Type
- snv
- Reference Allele
- ACAA
- Alternative Allele
- -
Genome browser