FLG c.5242C>A ;(p.Q1748K)

Variant ID: 1-152282120-G-T

NM_002016.1(FLG):c.5242C>A;(p.Q1748K)

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:

Pigmented Epithelioid Melanocytomas and Their Mimics; Focus on Their Novel Molecular Findings.

Biology
Bayraktar, Erol C EC; Jour, George G
Publication Date: 2021-12-08

Variant appearance in text: FLG: Q1748K
PubMed Link: 34943205
Variant Present in the following documents:
  • Main text
  • biology-10-01290.pdf
View BVdb publication page


Pigmented Epithelioid Melanocytomas and Their Mimics; Focus on Their Novel Molecular Findings.

Biology
Bayraktar, Erol C EC; Jour, George G
Publication Date: 2021-12-08

Variant appearance in text: FLG: Q1748K
PubMed Link: 34943205
Variant Present in the following documents:
  • Main text
  • biology-10-01290.pdf
View BVdb publication page