chr16:2079160:G>C Detail (hg38) (TSC2)

Information

Genome

Assembly Position
hg19 chr16:2,129,161-2,129,161 View the variant detail on this assembly version.
hg38 chr16:2,079,160-2,079,160

HGVS

Type Transcript Protein
RefSeq NM_000548.4:c.3095G>C NP_000539.2:p.Arg1032Pro
NM_001114382.2:c.3095G>C NP_001107854.1:p.Arg1032Pro
NM_001318829.1:c.2819G>C NP_001305758.1:p.Arg940Pro
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely 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 Likely pathogenic 2022-07-05 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.3095G>C (p.Arg1032Pro) AND Tuberous sclerosis syndrome ClinVar Detail
NM_000548.5(TSC2):c.3095G>C (p.Arg1032Pro) AND Tuberous sclerosis 2 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
rs45491698 dbSNP
Genome
hg38
Position
chr16:2,079,160-2,079,160
Variant Type
snv
Reference Allele
G
Alternative Allele
C
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