TERT p.Leu1115= (p.L1115=) Detail (hg19) (TERT)

Information

Genome

Assembly Position
hg19 chr5:1,253,897-1,253,897
hg38 chr5:1,253,782-1,253,782 

HGVS

Type Transcript Protein
RefSeq NM_001193376.1:c.3345G>A NP_001180305.1:p.Leu1115=
NM_198253.2:c.3345G>A NP_937983.2:p.Leu1115=
Ensemble ENST00000310581.10:c.3345G>A ENST00000310581.10:p.Leu1115=
Summary

MGeND

Clinical significance not provided
Variant entry 2
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 187270 OMIM
HGNC 11730 HGNC
Ensembl ENSG00000164362 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM4992208 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided caecum not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided ascending colon not provided MGS000042
(TMGS000093) 		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
hg19
Position
chr5:1,253,897-1,253,897
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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