NF1 c.1648C>A ;(p.L550M)

Variant ID: 17-29548874-C-A

NM_001042492.2(NF1):c.1648C>A;(p.L550M)

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:

Whole‑exome sequencing analysis of products of conception identifies novel mutations associated with missed abortion.

Molecular Medicine Reports
Fu, Meng M; Mu, Sha S; Wen, Chunyan C; Jiang, Shufang S; Li, Lin L; Meng, Yuanguang Y; Peng, Hongmei H
Publication Date: 2018-08

Variant appearance in text: NF1: 1648C>A; L550M
PubMed Link: 29956774
Variant Present in the following documents:
  • Main text
View BVdb publication page