AMACR c.401_402delinsGT ;(p.S134C)

Variant ID: 5-34004829-TG-AC

NM_014324.5(AMACR):c.401_402delinsGT;(p.S134C)

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:

Comparative DNA methylation among females with neurodevelopmental disorders and seizures identifies TAC1 as a MeCP2 target gene.

Journal Of Neurodevelopmental Disorders
Aldinger, Kimberly A KA; Plummer, Jasmine T JT; Levitt, Pat P
Publication Date: 2013-06-11

Variant appearance in text: RACE: S134C
PubMed Link: 23759142
Variant Present in the following documents:
  • 1866-1955-5-15-S1.pdf
View BVdb publication page