chr16:2130366:C>T Detail (hg19) (TSC2)

Information

Genome

Assembly Position
hg19 chr16:2,130,366-2,130,366
hg38 chr16:2,080,365-2,080,365 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001077183.2:c.3466C>T NP_001070651.1:p.Arg1156Trp
NM_001318827.1:c.3358C>T NP_001305756.1:p.Arg1120Trp
NM_001318831.1:c.3358C>T NP_001305760.1:p.Arg1120Trp
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2020/04/20 colon, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2022-05-25 criteria provided, multiple submitters, no conflicts Tuberous sclerosis syndrome germline Detail
Pathogenic 2023-04-14 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2024-02-21 criteria provided, multiple submitters, no conflicts tuberous sclerosis 2 germline unknown Detail
Pathogenic 2021-04-22 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2022-02-01 criteria provided, single submitter Isolated focal cortical dysplasia type II,Lymphangiomyomatosis,tuberous sclerosis 2 unknown Detail
Pathogenic 2022-02-01 criteria provided, single submitter Isolated focal cortical dysplasia type II,Lymphangiomyomatosis,tuberous sclerosis 2 unknown Detail
Pathogenic 2022-02-01 criteria provided, single submitter Isolated focal cortical dysplasia type II,Lymphangiomyomatosis,tuberous sclerosis 2 unknown Detail
Pathogenic 2023-10-25 criteria provided, single submitter TSC2-related disorder 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
0.494 tuberous sclerosis Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutatio... BeFree 21332470 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) AND Tuberous sclerosis syndrome ClinVar Detail
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) AND not provided ClinVar Detail
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) AND Tuberous sclerosis 2 ClinVar Detail
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) AND multiple conditions ClinVar Detail
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) AND multiple conditions ClinVar Detail
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) AND multiple conditions ClinVar Detail
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) AND TSC2-related disorder ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates... 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
rs45438205 dbSNP
Genome
hg19
Position
chr16:2,130,366-2,130,366
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser