MCPH1 c.80C>T ;(p.T27I)

Variant ID: 8-6266857-C-T

NM_024596.3(MCPH1):c.80C>T;(p.T27I)

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:

Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences.

Plos One
Fujikura, Kohei K
Publication Date: 2016

Variant appearance in text: rs199422124
PubMed Link: 27219052
Variant Present in the following documents:
  • pone.0155552.s003.pdf
View BVdb publication page