All variants in the MTR gene

Information The variants shown are described using the NM_000254.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

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     
+?/. - c.3518C>T r.(?) p.(Pro1173Leu) - likely pathogenic g.237058770C>T g.236895470C>T - - MTR_000067 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121913578 Germline - 1/2792 individuals - 0 - Mohammed Faruq
+?/. - c.3518C>T r.(?) p.(Pro1173Leu) - likely pathogenic g.237058770C>T - MTR(NM_000254.2):c.3518C>T (p.P1173L) - MTR_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.3518C>T r.(?) p.(Pro1173Leu) ACMG likely pathogenic g.237058770C>T g.236895470C>T - - MTR_000067 ACMG PS1, PM2, PP1, PP2 PubMed: Anazi 2017 - - Germline - - - 0 - Johan den Dunnen
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