chr15:43408987:T>C Detail (hg38) (TP53BP1, TUBGCP4)

Information

Genome

Assembly Position
hg19 chr15:43,701,185-43,701,185 View the variant detail on this assembly version.
hg38 chr15:43,408,987-43,408,987

HGVS

Type Transcript Protein
RefSeq NM_005657.2:c.5495A>G NP_005648.1:p.His1832Arg
NM_001141980.1:c.5510A>G NP_001135452.1:p.His1837Arg
NM_001141979.1:c.5504A>G NP_001135451.1:p.His1835Arg
Type Transcript Protein
RefSeq NM_014444.4:c.*3773T>C
Ensemble ENST00000564079.6:c.*3773T>C
Summary

MGeND

Clinical significance not provided
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:<0.001
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 605230 OMIM
HGNC 11999 HGNC
Ensembl ENSG00000067369 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv52742969 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 609610 OMIM
HGNC 16691 HGNC
Ensembl ENSG00000137822 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv52742969 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided 2021/03/15 breast, unspecified germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

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
-
Genome
hg38
Position
chr15:43,408,987-43,408,987
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
1209
Mean of sample read depth (HGVD)
106.20
Standard deviation of sample read depth (HGVD)
53.46
Number of reference allele (HGVD)
2417
Number of alternative allele (HGVD)
1
Allele Frequency (HGVD)
4.1356492969396195E-4
Gene Symbol (HGVD)
TP53BP1
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs1358232143
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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