chr17:7578221:TT> Detail (hg19) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,578,221-7,578,222
hg38 chr17:7,674,903-7,674,904 

HGVS

Type Transcript Protein
RefSeq NM_001126116.1:c.231_232delAA NP_001119588.1:p.Asn78HisfsTer5
NM_001276698.1:c.231_232delAA NP_001263627.1:p.Asn78HisfsTer5
NM_001276696.1:c.510_511delAA NP_001263625.1:p.Asn171HisfsTer5
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 191170 OMIM
HGNC 11998 HGNC
Ensembl ENSG00000141510 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM6922629 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1995-01-01 no assertion criteria provided Li-Fraumeni syndrome 1 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.441 Li-Fraumeni syndrome 1 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000546.6(TP53):c.628_629del (p.Asn210fs) AND Li-Fraumeni syndrome 1 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
rs587776768 dbSNP
Genome
hg19
Position
chr17:7,578,221-7,578,222
Variant Type
snv
Reference Allele
TT
Alternative Allele
-
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