chr10:87933094:T>C Detail (hg38) (PTEN)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr10:89,692,851-89,692,851 View the variant detail on this assembly version. |
hg38 | chr10:87,933,094-87,933,094 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000314.6:c.335T>C | NP_000305.3:p.Leu112Pro |
NM_001304717.2:c.335T>C | NP_001291646.2:p.Leu112Pro | |
NM_001304718.1:c.335T>C | NP_001291647.1:p.Leu112Pro |
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 |
---|---|---|---|---|---|
0.243 | Lhermitte-Duclos disease | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000314.8(PTEN):c.335T>C (p.Leu112Pro) AND Lhermitte-Duclos disease | ClinVar | Detail |
NM_000314.8(PTEN):c.335T>C (p.Leu112Pro) 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
- rs121909230 dbSNP
- Genome
- hg38
- Position
- chr10:87,933,094-87,933,094
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
Genome browser