MLH1 c.1168del ;(p.E390Nfs*11)

Variant ID: 3-37067254-CG-C

NM_000249.3(MLH1):c.1168del;(p.E390Nfs*11)

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:

A two-year prospective study assessing the performance of fetal chromosomal microarray analysis and next-generation sequencing in high-risk pregnancies.

Molecular Genetics & Genomic Medicine
Ridnõi, Konstantin K; Muru, Kai K; Keernik, Maria M; Pajusalu, Sander S; Ustav, Eva-Liina EL; Tammur, Pille P; Mölter-Väär, Triin T; Kahre, Tiina T; Šamarina, Ustina U; Asser, Karin K; Szirko, Ferenc F; Reimand, Tiia T; Õunap, Katrin K
Publication Date: 2021-10

Variant appearance in text: MLH1: 1168del; Glu390Asnfs*11
PubMed Link: 34486251
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1787.pdf
View BVdb publication page


A two-year prospective study assessing the performance of fetal chromosomal microarray analysis and next-generation sequencing in high-risk pregnancies.

Molecular Genetics & Genomic Medicine
Ridnõi, Konstantin K; Muru, Kai K; Keernik, Maria M; Pajusalu, Sander S; Ustav, Eva-Liina EL; Tammur, Pille P; Mölter-Väär, Triin T; Kahre, Tiina T; Šamarina, Ustina U; Asser, Karin K; Szirko, Ferenc F; Reimand, Tiia T; Õunap, Katrin K
Publication Date: 2021-10

Variant appearance in text: MLH1: 1168del; Glu390Asnfs*11
PubMed Link: 34486251
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1787.pdf
View BVdb publication page