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HR c.599G>A ;(p.S200N)
Variant ID: 8-21986085-C-T
NM_005144.4(
HR
):c.599G>A;(p.S200N)
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:
Abstracts of the 50th Anniversary ESPN Meeting, Glasgow, September 2017.
Pediatric Nephrology (Berlin, Germany)
Publication Date: 2017-09
Variant appearance in text: HR: 599G>A
PubMed Link:
28840254
Variant Present in the following documents:
467_2017_Article_3753.pdf
View BVdb publication page