chr3:189612094:C> Detail (hg19) (TP63)

Information

Genome

Assembly Position
hg19 chr3:189,612,094-189,612,094
hg38 chr3:189,894,305-189,894,305 

HGVS

Type Transcript Protein
RefSeq NM_001114978.1:c.1846delC NP_001108450.1:p.Leu616SerfsTer88
NM_003722.4:c.1846delC NP_003713.3:p.Leu616SerfsTer88
NM_001114980.1:c.1564delC NP_001108452.1:p.Leu522SerfsTer88
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
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
Uncertain significance 2017-07-06 criteria provided, single submitter TP63-Related Spectrum Disorders germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.483 ADULT syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_003722.5(TP63):c.1846del (p.Leu616fs) AND TP63-Related Spectrum Disorders 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
rs113993964 dbSNP
Genome
hg19
Position
chr3:189,612,094-189,612,094
Variant Type
snv
Reference Allele
C
Alternative Allele
-
Genome browser