chr16:2125798:A>G Detail (hg19) (TSC2)

Information

Genome

Assembly Position
hg19 chr16:2,125,798-2,125,798
hg38 chr16:2,075,797-2,075,797 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001318832.1:c.2579-2A>G
NM_001077183.2:c.2546-2A>G
NM_000548.4:c.2546-2A>G
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 191092 OMIM
HGNC 12363 HGNC
Ensembl ENSG00000103197 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 Tuberous sclerosis syndrome germline Detail
Pathogenic 2014-10-27 criteria provided, single submitter not provided germline Detail
Pathogenic 2021-11-07 criteria provided, multiple submitters, no conflicts tuberous sclerosis 2 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.441 TUBEROUS SCLEROSIS 2 (disorder) NA CLINVAR Detail
0.494 tuberous sclerosis NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000548.5(TSC2):c.2546-2A>G AND Tuberous sclerosis syndrome ClinVar Detail
NM_000548.5(TSC2):c.2546-2A>G AND not provided ClinVar Detail
NM_000548.5(TSC2):c.2546-2A>G AND Tuberous sclerosis 2 ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs45517246 dbSNP
Genome
hg19
Position
chr16:2,125,798-2,125,798
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser