chr8:26391347:G>T Detail (hg38) (BNIP3L)

Information

Genome

Assembly Position
hg19 chr8:26,248,863-26,248,863 View the variant detail on this assembly version.
hg38 chr8:26,391,347-26,391,347

HGVS

Type Transcript Protein
RefSeq NM_004331.2:c.205G>T NP_004322.1:p.Gly69Ter
Ensemble ENST00000380629.7:c.205G>T ENST00000380629.7:p.Gly69Ter
ENST00000518611.5:c.85G>T ENST00000518611.5:p.Gly29Ter
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 605368 OMIM
HGNC 1085 HGNC
Ensembl ENSG00000104765 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
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 liver carcinoma Seven polymorphisms of caspase 9 (rs2308941)C-->T and DOK2(rs2242241) T-->... BeFree 16109524 Detail
<0.001 liver carcinoma Seven polymorphisms of caspase 9 (rs2308941)C--&gt;T and DOK2(rs2242241) T--&gt;... BeFree 16109524 Detail
Annotation

Annotations

DescrptionSourceLinks
Seven polymorphisms of caspase 9 (rs2308941)C--&gt;T and DOK2(rs2242241) T--&gt;G, 6 of polymorphism... DisGeNET Detail
Seven polymorphisms of caspase 9 (rs2308941)C--&gt;T and DOK2(rs2242241) T--&gt;G, 6 of polymorphism... 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
rs1055806 dbSNP
Genome
hg38
Position
chr8:26,391,347-26,391,347
Variant Type
snv
Reference Allele
G
Alternative Allele
T
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