SI c.1606G>T ;(p.D536Y)

Variant ID: 3-164767024-C-A

NM_001041.3(SI):c.1606G>T;(p.D536Y)

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: 1606G>T
PubMed Link: 34217350
Variant Present in the following documents:
  • 13023_2021_Article_1937.pdf
View BVdb publication page