chr3:189789816:A>C Detail (hg38) (TP63)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:189,507,605-189,507,605 View the variant detail on this assembly version. |
hg38 | chr3:189,789,816-189,789,816 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001114978.1:c.325-18456A>C | |
NM_003722.4:c.325-18456A>C | ||
NM_001114980.1:c.16A>C | NP_001108452.1:p.Asn6His |
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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2001-08-01 | no assertion criteria provided | ADULT syndrome |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.483 | ADULT syndrome | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001114980.2(TP63):c.16A>C (p.Asn6His) AND ADULT syndrome | 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
- rs113993963 dbSNP
- Genome
- hg38
- Position
- chr3:189,789,816-189,789,816
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
Genome browser