RET c.3120G>C ;(p.L1040=)

Variant ID: 10-43622103-G-C

NM_020975.4(RET):c.3120G>C;(p.L1040=)

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:

Disorders of Sex Development in Individuals Harbouring MAMLD1 Variants: WES and Interactome Evidence of Oligogenic Inheritance.

Frontiers In Endocrinology
Li, Lele L; Gao, Fenqi F; Fan, Lijun L; Su, Chang C; Liang, Xuejun X; Gong, ChunXiu C
Publication Date: 2020

Variant appearance in text: RET: 3120G>C; L1040L
PubMed Link: 33424767
Variant Present in the following documents:
  • Main text
  • fendo-11-582516.pdf
View BVdb publication page