chr5:1268680:T>C Detail (hg19) (TERT)

Information

Genome

Assembly Position
hg19 chr5:1,268,680-1,268,680
hg38 chr5:1,268,565-1,268,565 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001193376.1:c.2537A>G NP_001180305.1:p.Tyr846Cys
NM_198253.2:c.2537A>G NP_937983.2:p.Tyr846Cys
Ensemble ENST00000310581.10:c.2537A>G ENST00000310581.10:p.Tyr846Cys
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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
not provided no assertion provided aplastic anemia unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.248 aplastic anemia NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_198253.3(TERT):c.2537A>G (p.Tyr846Cys) AND Aplastic anemia 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
rs199422302 dbSNP
Genome
hg19
Position
chr5:1,268,680-1,268,680
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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