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PKD1 c.12721_12722delinsGC ;(p.Q4241A)
Variant ID: 16-2139918-TG-GC
NM_001009944.2(
PKD1
):c.12721_12722delinsGC;(p.Q4241A)
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:
Structural model of the TRPP2/PKD1 C-terminal coiled-coil complex produced by a combined computational and experimental approach.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Zhu, Jiang J; Yu, Yong Y; Ulbrich, Maximilian H MH; Li, Ming-hui MH; Isacoff, Ehud Y EY; Honig, Barry B; Yang, Jian J
Publication Date: 2011-06-21
Variant appearance in text: PKD1: Q4241A
PubMed Link:
21642537
Variant Present in the following documents:
Main text
View BVdb publication page