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COL12A1 c.5893C>A ;(p.R1965S)
Variant ID: 6-75841700-G-T
NM_004370.5(
COL12A1
):c.5893C>A;(p.R1965S)
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:
Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.
Scientific Reports
John, Sumi Elsa SE; Antony, Dinu D; Eaaswarkhanth, Muthukrishnan M; Hebbar, Prashantha P; Channanath, Arshad Mohamed AM; Thomas, Daisy D; Devarajan, Sriraman S; Tuomilehto, Jaakko J; Al-Mulla, Fahd F; Alsmadi, Osama O; Thanaraj, Thangavel Alphonse TA
Publication Date: 2018-11-08
Variant appearance in text: rs200487396
PubMed Link:
30409984
Variant Present in the following documents:
Main text
41598_2018_Article_34815.pdf
View BVdb publication page