Full data view for gene RPL31

Information The variants shown are described using the NM_001098577.2 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - c.(?_346+277)_(346+312_?)del r.? p.? Unknown - likely pathogenic g.(?_101622810)_(101622845_?)del - - - RPL31_000001 putative deletion detected by WES CNV analysis PubMed: Ulirsch 2018 - - Germline - - - 0 - DNA SEQ-NG - WES DBA 30503522-DBAputdel14 PubMed: Ulirsch 2018 - - - - - - 0 - - 1 Johan den Dunnen
+?/. - c.(?_346+4808)_(346+5005_?)del r.? p.? Unknown - likely pathogenic g.(?_101627341)_(101627538_?)del - - - RPL31_000002 putative deletion detected by WES CNV analysis PubMed: Ulirsch 2018 - - Germline - - - 0 - DNA SEQ-NG - WES DBA 30503522-DBAputdel15 PubMed: Ulirsch 2018 - - - - - - 0 - - 1 Johan den Dunnen
+?/. - c.(?_347-50)_(*50_?)del r.? p.? Unknown - likely pathogenic g.(?_101635410)_(101635550_?)del - - - RPL31_000003 putative deletion detected by WES CNV analysis PubMed: Ulirsch 2018 - - Germline - - - 0 - DNA SEQ-NG - WES DBA 30503522-DBAputdel16 PubMed: Ulirsch 2018 - - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.*10665G>A r.(=) p.(=) Unknown - likely benign g.101646165G>A - TBC1D8(NM_001102426.2):c.1965C>T (p.N655=) - RPL31_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*17037G>A r.(=) p.(=) Unknown - VUS g.101652537G>A - TBC1D8(NM_001102426.2):c.1501C>T (p.L501F) - TBC1D8_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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