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NM_000448.2:c.940C>T
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NM_000448.2:c.940C>T
HGVS Expressions
NG_007528.1:g.11232C>T
NM_000448.2:c.940C>T
NP_000439.1:p.Arg314Trp
NC_000011.10:g.36574244C>T
Associated Genes
Recombination-Activating Gene 1
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Clinvar Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
121918568
Clinvar
13156
Contributors
Pratibha Nair: 15.10.2018
Edit History
Pratibha Nair: 08.11.2022
Pratibha Nair: 09.01.2019
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