CPAMD8 c.362T>C ;(p.V121A)

Variant ID: 19-17122473-A-G

NM_015692.2(CPAMD8):c.362T>C;(p.V121A)

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:

Compound Heterozygous Variants of the CPAMD8 Gene Co-Segregating in Two Chinese Pedigrees With Pigment Dispersion Syndrome/Pigmentary Glaucoma.

Frontiers In Genetics
Tan, Junkai J; Zeng, Liuzhi L; Wang, Yun Y; Liu, Guo G; Huang, Longxiang L; Chen, Defu D; Wang, Xizhen X; Fan, Ning N; He, Yu Y; Liu, Xuyang X
Publication Date: 2022

Variant appearance in text: CPAMD8: 503T>C
PubMed Link: 35957697
Variant Present in the following documents:
  • Main text
  • fgene-13-845081.pdf
View BVdb publication page