SI c.942_944del ;(p.Y314_R315delins*)

Variant ID: 3-164780235-TCTA-T

NM_001041.3(SI):c.942_944del;(p.Y314_R315delins*)

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:

Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature.

Orphanet Journal Of Rare Diseases
Kamil, Gilyazetdinov G; Yoon, Ju Young JY; Yoo, Sukdong S; Cheon, Chong Kun CK
Publication Date: 2021-07-03

Variant appearance in text: SI: 942_944del
PubMed Link: 34217350
Variant Present in the following documents:
  • 13023_2021_Article_1937.pdf
View BVdb publication page