chr13:28386456:T>A Detail (hg38) (FLT1)

Information

Genome

Assembly Position
hg19 chr13:28,960,593-28,960,593 View the variant detail on this assembly version.
hg38 chr13:28,386,456-28,386,456

HGVS

Type Transcript Protein
RefSeq NM_002019.4:c.1970-1425A>T
NM_001160030.1:c.1970-1425A>T
NM_001159920.1:c.*3245A>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.570
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 165070 OMIM
HGNC 3763 HGNC
Ensembl ENSG00000102755 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv48116712 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.021 colon carcinoma After stratifying by tumor molecular subtype, SNP associations observed for colo... BeFree 23794399 Detail
0.018 Malignant tumor of colon After stratifying by tumor molecular subtype, SNP associations observed for colo... BeFree 23794399 Detail
<0.001 Colonic Neoplasms After stratifying by tumor molecular subtype, SNP associations observed for colo... BeFree 23794399 Detail
0.239 Colonic Neoplasms After stratifying by tumor molecular subtype, SNP associations observed for colo... BeFree 23794399 Detail
Annotation

Annotations

DescrptionSourceLinks
After stratifying by tumor molecular subtype, SNP associations observed for colon cancer were: VEGFA... DisGeNET Detail
After stratifying by tumor molecular subtype, SNP associations observed for colon cancer were: VEGFA... DisGeNET Detail
After stratifying by tumor molecular subtype, SNP associations observed for colon cancer were: VEGFA... DisGeNET Detail
After stratifying by tumor molecular subtype, SNP associations observed for colon cancer were: VEGFA... 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
rs3751397 dbSNP
Genome
hg38
Position
chr13:28,386,456-28,386,456
Variant Type
snv
Reference Allele
T
Alternative Allele
A
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))
rs3751397
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5696
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
9547
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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