AKAP6 c.5689G>A ;(p.G1897S)

Variant ID: 14-33292708-G-A

NM_004274.4(AKAP6):c.5689G>A;(p.G1897S)

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:

Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome.

Journal Of Medical Genetics
Codina-Sola, Marta M; Costa-Roger, Mar M; Pérez-García, Debora D; Flores, Raquel R; Palacios-Verdú, Maria Gabriela MG; Cusco, Ivon I; Pérez-Jurado, Luis Alberto LA
Publication Date: 2019-12

Variant appearance in text: AKAP6: G1897S
PubMed Link: 31413120
Variant Present in the following documents:
  • jmedgenet-2019-106080supp001.pdf
View BVdb publication page