VWF c.2039A>G ;(p.N680S)

Variant ID: 12-6161856-T-C

NM_000552.3(VWF):c.2039A>G;(p.N680S)

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:

Spontaneous Ovarian Hyperstimulation Syndrome with FSH Receptor Gene Mutation: Two Rare Case Reports.

Case Reports In Obstetrics And Gynecology
Topdagi Yilmaz, Emsal Pinar EP; Yapca, Omer Erkan OE; Topdagi, Yunus Emre YE; Kaya Topdagi, Seray S; Kumtepe, Yakup Y
Publication Date: 2018

Variant appearance in text: VWF: Asn680Ser
PubMed Link: 30410807
Variant Present in the following documents:
  • Main text
  • CRIOG2018-9294650.pdf
View BVdb publication page