Unique variants in gene MRPL3

Information The variants shown are described using the NM_007208.3 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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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 1_10 c.(?_-195)_(*522_?)del - r.0 p.0 g.? - - - MRPL3_000002 0.25 Mb deletion entire gene, from rs9813877 to rs2976150 - - - Germline - - - - - Agnes Rotig
+/. 1 _1_10_ c.(?_-1)_(*1_?)del pathogenic r.0 p.0 g.(130971390_131181566)_(131221666_131374290)del - - - MRPL3_000010 rs9813877 and rs9822908 outside deletion PubMed: Galmiche 2011 - - Germline yes - - - - Johan den Dunnen
+?/. 1 - c.92+1G>A likely pathogenic r.spl? p.? g.131221573C>T - MRPL3(NM_007208.3):c.92+1G>A - MRPL3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.224G>A likely benign r.(?) p.(Ser75Asn) g.131220428C>T - - - MRPL3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.816+12A>C benign r.(=) p.(=) g.131188528T>G - MRPL3(NM_007208.3):c.816+12A>C - MRPL3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 9 c.862T>C - r.(?) p.(Ser288Pro) g.131186967A>G g.131468123A>G - - MRPL3_000006 - PubMed: Neubauer 2017, Journal: Neubauer 2017 - rs143788120 Germline ? - - - - Cordula Haas
-/. 1 - c.894+27del benign r.(=) p.(=) g.131186916del - MRPL3(NM_007208.3):c.894+27delT - MRPL3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/., +/. 2 10 c.950C>G likely pathogenic r.950c>g, r.950c>u p.Pro317Arg g.131181664G>C g.131462820G>C - - MRPL3_000001 - PubMed: Galmiche 2011 - - Germline yes - - - - Johan den Dunnen, Agnes Rotig
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