chr5:1278880:G>C Detail (hg19) (TERT)

Information

Genome

Assembly Position
hg19 chr5:1,278,880-1,278,880
hg38 chr5:1,278,765-1,278,765 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001193376.1:c.2162C>G NP_001180305.1:p.Pro721Arg
NM_198253.2:c.2162C>G NP_937983.2:p.Pro721Arg
Ensemble ENST00000310581.10:c.2162C>G ENST00000310581.10:p.Pro721Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance not provided
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 COSM3608254 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
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
Annotation

Annotations

DescrptionSourceLinks
NM_198253.3(TERT):c.2162C>G (p.Pro721Arg) AND Dyskeratosis congenita, autosomal dominant 1 ClinVar 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
rs199422299 dbSNP
Genome
hg19
Position
chr5:1,278,880-1,278,880
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Genome browser