PSEN1 c.1262_1263inv ;(p.T421M)

Variant ID: 14-73685855-CA-TG

NM_000021.3(PSEN1):c.1262_1263inv;(p.T421M)

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:

Inter-rater reliability of phenotypes and exploratory genotype-phenotype analysis in inherited hidradenitis suppurativa.

The British Journal Of Dermatology
Frew, J W JW; Hawkes, J E JE; Sullivan-Whalen, M M; Gilleaudeau, P P; Krueger, J G JG
Publication Date: 2019-09

Variant appearance in text: PSEN1: Thr421Met
PubMed Link: 30693478
Variant Present in the following documents:
  • Main text
View BVdb publication page