chr5:1264541:C>G Detail (hg38) (TERT)

Information

Genome

Assembly Position
hg19 chr5:1,264,656-1,264,656 View the variant detail on this assembly version.
hg38 chr5:1,264,541-1,264,541

HGVS

Type Transcript Protein
RefSeq NM_001193376.1:c.2706G>C NP_001180305.1:p.Lys902Asn
NM_198253.2:c.2706G>C NP_937983.2:p.Lys902Asn
Ensemble ENST00000310581.10:c.2706G>C ENST00000310581.10:p.Lys902Asn
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 2005-11-01 no assertion criteria provided Dyskeratosis congenita, autosomal dominant 2 germline Detail
not provided no assertion provided Dyskeratosis congenita, autosomal dominant 1 unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.241 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT NA CLINVAR Detail
0.240 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 2 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_198253.3(TERT):c.2706G>C (p.Lys902Asn) AND Dyskeratosis congenita, autosomal dominant 2 ClinVar Detail
NM_198253.3(TERT):c.2706G>C (p.Lys902Asn) AND Dyskeratosis congenita, autosomal dominant 1 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
rs121918665 dbSNP
Genome
hg38
Position
chr5:1,264,541-1,264,541
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Genome browser