Unique variants in gene LRSAM1

Information The variants shown are described using the transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
./. 1 - c.1913-1G>A - r.spl? p.? g.130263288G>A - - - LRSAM1_000016 gene localized by homozygosity mapping PubMed: Guernsey 2010 - - Germline yes - - - - Johan den Dunnen
+?/. 1 - c.1957dup ACMG: 4 r.(?) p.(Gln653Profs*5) g.130263328dup - - - LRSAM1_000015 ACMG grading: PM2,PVS1 - - rs775965001 Germline - - - - - Andreas Laner
./. 1 - c.2021_2024del - r.(?) p.(Glu674Valfs*11) g.130263397_130263400del - - - LRSAM1_000019 - PubMed: Zhao 2018 - - Germline yes - - - - Johan den Dunnen
./. 1 - c.2046+1G>T - r.spl? p.? g.130263423G>T - - - LRSAM1_000021 - PubMed: Engeholm 2014 - - Germline yes - - - - Johan den Dunnen
./. 1 - c.2047-1G>A - r.2047del p.? g.130265052G>A - - - LRSAM1_000017 - PubMed: Nicolaou 2013 - - Germline yes - - - - Johan den Dunnen
+?/. 1 - c.2075_2087del ACMG: 4 r.(?) p.(His692Profs*39) g.130265081_130265093del - - - LRSAM1_000001 - Trujillano et al., submitted - - Germline - - - - - Daniel Trujillano
+/. 1 - c.2080T>C - r.(?) p.(Cys694Arg) g.130265086T>C - - - LRSAM1_000020 tested variant in vitro PubMed: Hu 2016 - - Germline yes - - - - Johan den Dunnen
./. 1 - c.2081G>A - r.(?) p.(Cys694Tyr) g.130265087G>A - - - LRSAM1_000018 - PubMed: Peeters 2016 - - Germline yes - - - - Johan den Dunnen
./. 1 - c.2121_2122dup - r.(?) p.(Leu708Argfs*28) g.130265127_130265128dup - 2121_2122insGC (Leu708Argfx28) - LRSAM1_000009 gene mapped using linkage (LOD score 5.12); variant not in 676 control chromosomes PubMed: Weterman 2012 - - Germline yes - - - - Johan den Dunnen
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