TG c.1389_1390insT ;(p.P464Sfs*21)

Variant ID: 8-133899006-C-CT

NM_003235.4(TG):c.1389_1390insT;(p.P464Sfs*21)

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:

Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates.

Prenatal Diagnosis
Lazarin, Gabriel A GA; Haque, Imran S IS; Evans, Eric A EA; Goldberg, James D JD
Publication Date: 2017-04

Variant appearance in text: TG: 1389insT
PubMed Link: 28166604
Variant Present in the following documents:
  • Main text
  • PD-37-350.pdf
View BVdb publication page