chr5:1278802:A> Detail (hg19) (TERT)

Information

Genome

Assembly Position
hg19 chr5:1,278,802-1,278,802
hg38 chr5:1,278,687-1,278,687 

HGVS

Type Transcript Protein
RefSeq NM_001193376.1:c.2240delT NP_001180305.1:p.Val747AlafsTer20
NM_198253.2:c.2240delT NP_937983.2:p.Val747AlafsTer20
Ensemble ENST00000310581.10:c.2240delT ENST00000310581.10:p.Val747AlafsTer20
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2007-05-01 no assertion criteria provided Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 germline Detail
not provided no assertion provided interstitial lung disease 2 unknown Detail
Pathogenic 2019-11-19 criteria provided, single submitter not provided germline Detail
Likely risk allele 2022-06-09 no assertion criteria provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.493 Idiopathic Pulmonary Fibrosis NA CLINVAR Detail
0.240 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_198253.3(TERT):c.2240del (p.Val747fs) AND Pulmonary fibrosis and/or bone marrow failure, Telomere... ClinVar Detail
NM_198253.3(TERT):c.2240del (p.Val747fs) AND Interstitial lung disease 2 ClinVar Detail
NM_198253.3(TERT):c.2240del (p.Val747fs) AND not provided ClinVar Detail
NM_198253.3(TERT):c.2240del (p.Val747fs) AND Pulmonary fibrosis ClinVar Detail
NA DisGeNET Detail
NA 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
rs199422300 dbSNP
Genome
hg19
Position
chr5:1,278,802-1,278,802
Variant Type
snv
Reference Allele
A
Alternative Allele
-
Genome browser