MLH1 c.4_62del ;(p.S2Gfs*9)

Variant ID: 3-37035042-GTCGTTCGTGGCAGGGGTTATTCGGCGGCTGGACGAGACAGTGGTGAACCGCATCGCGGC-G

NM_000249.3(MLH1):c.4_62del;(p.S2Gfs*9)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity.

Molecular Carcinogenesis
Parsons, Michael T MT; Whiley, Phillip J PJ; Beesley, Jonathan J; Drost, Mark M; de Wind, Niels N; Thompson, Bryony A BA; Marquart, Louise L; Hopper, John L JL; Jenkins, Mark A MA; , ; Brown, Melissa A MA; Tucker, Kathy K; Warwick, Linda L; Buchanan, Daniel D DD; Spurdle, Amanda B AB
Publication Date: 2015-07

Variant appearance in text: MLH1: Met1_Glu34del
PubMed Link: 24302565
Variant Present in the following documents:
  • Main text
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