chr5:1294826:A>T Detail (hg38) (TERT, LOC110806263)

Information

Genome

Assembly Position
hg19 chr5:1,294,941-1,294,941 View the variant detail on this assembly version.
hg38 chr5:1,294,826-1,294,826

HGVS

Type Transcript Protein
RefSeq NM_001193376.1:c.164T>A NP_001180305.1:p.Leu55Gln
NM_198253.2:c.164T>A NP_937983.2:p.Leu55Gln
Ensemble ENST00000310581.10:c.164T>A ENST00000310581.10:p.Leu55Gln
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 2007-03-29 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
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.164T>A (p.Leu55Gln) AND Pulmonary fibrosis and/or bone marrow failure, Telomere-... ClinVar Detail
NM_198253.3(TERT):c.164T>A (p.Leu55Gln) AND Interstitial lung disease 2 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
rs387907247 dbSNP
Genome
hg38
Position
chr5:1,294,826-1,294,826
Variant Type
snv
Reference Allele
A
Alternative Allele
T
Genome browser