Full data view for gene MRPS15

Information The variants shown are described using the NM_031280.3 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.-4929G>C benign r.(?) p.(=) Unknown g.36934805C>G - CSF3R(NM_000760.3):c.1528G>C (p.(Asp510His)) - CSF3R_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3839T>C benign r.(?) p.(=) Unknown g.36933715A>G - CSF3R(NM_156039.3):c.1684T>C (p.Y562H) - CSF3R_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2598G>A likely benign r.(?) p.(=) Unknown g.36932474C>T - CSF3R(NM_156039.3):c.2076G>A (p.(=)) - CSF3R_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2587T>C likely benign r.(?) p.(=) Unknown g.36932463A>G - CSF3R(NM_156039.3):c.2087T>C (p.M696T) - CSF3R_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-2382C>T likely benign r.(?) p.(=) Unknown g.36932258G>A - CSF3R(NM_156039.3):c.2292C>T (p.S764=) - CSF3R_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2351G>A likely benign r.(?) p.(=) Unknown g.36932227C>T - CSF3R(NM_156039.3):c.2323G>A (p.D775N) - CSF3R_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2165G>A likely benign r.(?) p.(=) Unknown g.36932041C>T - CSF3R(NM_156039.3):c.2509G>A (p.D837N) - CSF3R_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2109T>C likely benign r.(?) p.(=) Unknown g.36931985A>G - CSF3R(NM_156039.3):c.2565T>C (p.H855=) - CSF3R_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend