Full data view for gene MRPS22

Information The variants shown are described using the NM_020191.2 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen prediction     

GVS function     

Splice distance     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Variant remarks     

Template     

Technique     

Tissue     

Disease     

Gender     

Remarks     

Panel size     

Owner     
./. - c.257A>G 257 r.(?) p.(Asn86Ser) - missense - Unknown g.139065804A>G - MRPS22_000008 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.283A>C 283 r.(?) p.(Ile95Leu) - missense - Unknown g.139065830A>C - MRPS22_000009 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.283A>C 283 r.(?) p.(Ile95Leu) - missense - Unknown g.139065830A>C - MRPS22_000009 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.283A>C 283 r.(?) p.(Ile95Leu) - missense - Unknown g.139065830A>C - MRPS22_000009 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.988-33A>G 988 r.(=) p.(=) - intron 33 Unknown g.139075728A>G - COPB2_000013 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.988-33A>G 988 r.(=) p.(=) - intron 33 Unknown g.139075728A>G - COPB2_000013 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.988-33A>G 988 r.(=) p.(=) - intron 33 Unknown g.139075728A>G - COPB2_000013 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.988-33A>G 988 r.(=) p.(=) - intron 33 Unknown g.139075728A>G - COPB2_000013 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.*830T>A 1913 r.(=) p.(=) - utr-3 - Unknown g.139076686T>A - COPB2_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.*830T>A 1913 r.(=) p.(=) - utr-3 - Unknown g.139076686T>A - COPB2_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.*964G>T 2047 r.(=) p.(=) - utr-3 - Paternal (inferred) g.139076820G>T - COPB2_000010 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.*964G>T 2047 r.(=) p.(=) - utr-3 - Unknown g.139076820G>T - COPB2_000010 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.*964G>T 2047 r.(=) p.(=) - utr-3 - Unknown g.139076820G>T - COPB2_000010 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.*1225C>T 2308 r.(=) p.(=) - utr-3 - Unknown g.139077081C>T - COPB2_000011 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.*1321C>G 2404 r.(=) p.(=) - utr-3 - Unknown g.139077177C>G - MRPS22_000007 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.*1321C>G 2404 r.(=) p.(=) - utr-3 - Unknown g.139077177C>G - MRPS22_000007 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.*1321C>G 2404 r.(=) p.(=) - utr-3 - Unknown g.139077177C>G - MRPS22_000007 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.*1321C>G 2404 r.(=) p.(=) - utr-3 - Unknown g.139077177C>G - MRPS22_000007 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.*1321C>G 2404 r.(=) p.(=) - utr-3 - Unknown g.139077177C>G - MRPS22_000007 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.*1843A>G 2926 r.(=) p.(=) - utr-3 - Unknown g.139077699A>G - COPB2_000012 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
Legend   How to query