TSC2 c.5108dup ;(p.S1704Vfs*2)

Variant ID: 16-2138087-G-GT

NM_000548.3(TSC2):c.5108dup;(p.S1704Vfs*2)

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:

Sirolimus therapy for fetal cardiac rhabdomyoma in a pregnant woman with tuberous sclerosis.

Obstetrics & Gynecology Science
Park, Hyea H; Chang, Chi Son CS; Choi, Suk-Joo SJ; Oh, Soo-Young SY; Roh, Cheong-Rae CR
Publication Date: 2019-07

Variant appearance in text: TSC2: 5108dup; Ser1704Valfs*2
PubMed Link: 31338346
Variant Present in the following documents:
  • Main text
  • ogs-62-280.pdf
View BVdb publication page