TSC2 c.1511T>A ;(p.V504D)

Variant ID: 16-2114340-T-A

NM_000548.3(TSC2):c.1511T>A;(p.V504D)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings.

Human Mutation
Dufner Almeida, Luiz G LG; Nanhoe, Santoesha S; Zonta, Andrea A; Hosseinzadeh, Mitra M; Kom-Gortat, Regina R; Elfferich, Peter P; Schaaf, Gerben G; Kenter, Annegien A; Kümmel, Daniel D; Migone, Nicola N; Povey, Sue S; Ekong, Rosemary R; Nellist, Mark M
Publication Date: 2020-04

Variant appearance in text: TSC2: 1511T>A; V504D
PubMed Link: 31799751
Variant Present in the following documents:
  • Main text
  • HUMU-41-759.pdf
View BVdb publication page