chr7:72982874:C>T Detail (hg19) (TBL2)

Information

Genome

Assembly Position
hg19 chr7:72,982,874-72,982,874
hg38 chr7:73,568,544-73,568,544 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_012453.2:c.*1963G>A
Ensemble ENST00000305632.11:c.*1963G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.103
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 605842 OMIM
HGNC 11586 HGNC
Ensembl ENSG00000106638 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv29697164 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
<0.001 Hyperlipidemia, Familial Combined Variants more frequently identified in isolated hypertriglyceridemias were rs741... BeFree 25176936 Detail
<0.001 Hyperlipidemia, Familial Combined Variants more frequently identified in isolated hypertriglyceridemias were rs741... BeFree 25176936 Detail
0.015 Hyperlipidemia, Familial Combined Variants more frequently identified in isolated hypertriglyceridemias were rs741... BeFree 25176936 Detail
0.003 Cerebrovascular accident Because affected lipid metabolism can confer risk to the development of ischaemi... BeFree 20158509 Detail
<0.001 Hyperlipidemia, Familial Combined Variants more frequently identified in isolated hypertriglyceridemias were rs741... BeFree 25176936 Detail
Annotation

Annotations

DescrptionSourceLinks
Variants more frequently identified in isolated hypertriglyceridemias were rs7412 in APOE and rs1800... DisGeNET Detail
Variants more frequently identified in isolated hypertriglyceridemias were rs7412 in APOE and rs1800... DisGeNET Detail
Variants more frequently identified in isolated hypertriglyceridemias were rs7412 in APOE and rs1800... DisGeNET Detail
Because affected lipid metabolism can confer risk to the development of ischaemic stroke, we studied... DisGeNET Detail
Variants more frequently identified in isolated hypertriglyceridemias were rs7412 in APOE and rs1800... 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
rs17145738 dbSNP
Genome
hg19
Position
chr7:72,982,874-72,982,874
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs17145738
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1031
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1728
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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