KMT2D c.2127A>G ;(p.P709=)

Variant ID: 12-49445339-T-C

NM_003482.3(KMT2D):c.2127A>G;(p.P709=)

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:

Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir - India.

Frontiers In Genetics
Angural, Arshia A; Spolia, Akshi A; Mahajan, Ankit A; Verma, Vijeshwar V; Sharma, Ankush A; Kumar, Parvinder P; Dhar, Manoj Kumar MK; Pandita, Kamal Kishore KK; Rai, Ekta E; Sharma, Swarkar S
Publication Date: 2020

Variant appearance in text: KMT2D: 2127A>G
PubMed Link: 32425985
Variant Present in the following documents:
  • Main text
  • fgene-11-00415.pdf
View BVdb publication page