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RET c.1456G>A ;(p.V486M)
Variant ID: 10-43606847-G-A
NM_020975.4(
RET
):c.1456G>A;(p.V486M)
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:
The advances of genetics research on Hirschsprung's disease.
Pediatric Investigation
Ke, Juntao J; Zhu, Ying Y; Miao, Xiaoping X
Publication Date: 2018-09
Variant appearance in text: RET: V486M
PubMed Link:
32851260
Variant Present in the following documents:
Main text
PED4-2-189.pdf
View BVdb publication page