chr5:1271271:G>A Detail (hg19) (TERT)

Information

Genome

Assembly Position
hg19 chr5:1,271,271-1,271,271
hg38 chr5:1,271,156-1,271,156 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001193376.1:c.2431C>T NP_001180305.1:p.Arg811Cys
NM_198253.2:c.2431C>T NP_937983.2:p.Arg811Cys
Ensemble ENST00000310581.10:c.2431C>T ENST00000310581.10:p.Arg811Cys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
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 COSM6968248 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2007-12-15 no assertion criteria provided autosomal recessive dyskeratosis congenita 4 germline Detail
not provided no assertion provided Dyskeratosis congenita, autosomal recessive 1 unknown Detail
Likely pathogenic 2021-08-11 criteria provided, single submitter not provided germline Detail
Uncertain significance 2022-03-22 criteria provided, single submitter Dyskeratosis congenita, autosomal dominant 2 germline Detail
Uncertain significance 2023-07-10 criteria provided, single submitter Idiopathic Pulmonary Fibrosis,Dyskeratosis congenita, autosomal dominant 2 germline Detail
Uncertain significance 2023-07-10 criteria provided, single submitter Idiopathic Pulmonary Fibrosis,Dyskeratosis congenita, autosomal dominant 2 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4 NA CLINVAR Detail
0.120 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 1 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_198253.3(TERT):c.2431C>T (p.Arg811Cys) AND Autosomal recessive dyskeratosis congenita 4 ClinVar Detail
NM_198253.3(TERT):c.2431C>T (p.Arg811Cys) AND Dyskeratosis congenita, autosomal recessive 1 ClinVar Detail
NM_198253.3(TERT):c.2431C>T (p.Arg811Cys) AND not provided ClinVar Detail
NM_198253.3(TERT):c.2431C>T (p.Arg811Cys) AND Dyskeratosis congenita, autosomal dominant 2 ClinVar Detail
NM_198253.3(TERT):c.2431C>T (p.Arg811Cys) AND multiple conditions ClinVar Detail
NM_198253.3(TERT):c.2431C>T (p.Arg811Cys) AND multiple conditions 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
rs199422301 dbSNP
Genome
hg19
Position
chr5:1,271,271-1,271,271
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser