COL16A1 c.1253G>C ;(p.R418P)

Variant ID: 1-32157610-C-G

NM_001856.3(COL16A1):c.1253G>C;(p.R418P)

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:

Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.

Plos One
Cheung, Stephanie S; Schlegel, Peter N PN; Rosenwaks, Zev Z; Palermo, Gianpiero D GD
Publication Date: 2019

Variant appearance in text: COL16A1: 1253G>C
PubMed Link: 30608972
Variant Present in the following documents:
  • pone.0210079.s007.xlsx, sheet 18
  • pone.0210079.s007.xlsx, sheet 4
  • pone.0210079.s007.xlsx, sheet 3
  • pone.0210079.s007.xlsx, sheet 19
  • pone.0210079.s007.xlsx, sheet 21
View BVdb publication page