chr16:2124304:TCA> Detail (hg19) (TSC2)

Information

Genome

Assembly Position
hg19 chr16:2,124,304-2,124,306
hg38 chr16:2,074,303-2,074,305 

HGVS

Type Transcript Protein
RefSeq NM_001318832.1:c.2492_2494delTCA NP_001305761.1:p.Ile831del
NM_001077183.2:c.2459_2461delTCA NP_001070651.1:p.Ile820del
NM_000548.4:c.2459_2461delTCA NP_000539.2:p.Ile820del
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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
[No Data.]
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
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
rs137854128 dbSNP
Genome
hg19
Position
chr16:2,124,304-2,124,306
Variant Type
snv
Reference Allele
TCA
Alternative Allele
-
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