chr16:2134966:A>C Detail (hg19) (TSC2)

Information

Genome

Assembly Position
hg19 chr16:2,134,966-2,134,966
hg38 chr16:2,084,965-2,084,965 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000548.4:c.4508A>C NP_000539.2:p.Gln1503Pro
NM_001318832.1:c.4340A>C NP_001305761.1:p.Gln1447Pro
NM_001077183.2:c.4307A>C NP_001070651.1:p.Gln1436Pro
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
Pathogenic Likely pathogenic 2023-03-07 criteria provided, multiple submitters, no conflicts tuberous sclerosis 2 germline unknown Detail
Pathogenic Likely pathogenic 2019-12-03 criteria provided, multiple submitters, no conflicts Tuberous sclerosis syndrome germline Detail
Pathogenic 2023-05-02 criteria provided, single submitter not provided germline Detail
Pathogenic 2016-08-12 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2023-05-02 criteria provided, single submitter Isolated focal cortical dysplasia type II unknown 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.4508A>C (p.Gln1503Pro) AND Tuberous sclerosis 2 ClinVar Detail
NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro) AND Tuberous sclerosis syndrome ClinVar Detail
NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro) AND not provided ClinVar Detail
NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro) AND Isolated focal cortical dysplasia type II 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
rs45516293 dbSNP
Genome
hg19
Position
chr16:2,134,966-2,134,966
Variant Type
snv
Reference Allele
A
Alternative Allele
C
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