MED16 c.2221C>T ;(p.R741C)

Variant ID: 19-871131-G-A

NM_005481.2(MED16):c.2221C>T;(p.R741C)

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:

KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature.

Bmc Medical Genetics
Kumar, Kishore K; Bellad, Anikha A; Prasad, Pramada P; Girimaji, Satish Chandra SC; Muthusamy, Babylakshmi B
Publication Date: 2020-06-26

Variant appearance in text: MED16: R741C
PubMed Link: 32590954
Variant Present in the following documents:
  • 12881_2020_1074_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page