PALB2 c.1499C>G ;(p.S500C)

Variant ID: 16-23646368-G-C

NM_024675.3(PALB2):c.1499C>G;(p.S500C)

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:

Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors.

Jci Insight
Tang, Clara Sze Man CSM; Mononen, Mimmi M; Lam, Wai-Yee WY; Jin, Sheng Chih SC; Zhuang, Xuehan X; Garcia-Barcelo, Maria-Mercè MM; Lin, Qiongfen Q; Yang, Yujia Y; Sahara, Makoto M; Eroglu, Elif E; Chien, Kenneth R KR; Hong, Haifa H; Tam, Paul Kwong Hang PKH; Gruber, Peter J PJ
Publication Date: 2022-01-25

Variant appearance in text: PALB2: 1499C>G; Ser500Cys
PubMed Link: 34905512
Variant Present in the following documents:
  • jciinsight-7-152198-s012.xlsx, sheet 7
View BVdb publication page