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

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 603273 OMIM
HGNC 15979 HGNC
Ensembl ENSG00000073282 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2001-08-01 no assertion criteria provided ADULT syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.483 ADULT syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
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