Full data view for gene EXOSC6

Information The variants shown are described using the NM_058219.2 transcript reference sequence.

26 entries on 1 page. Showing entries 1 - 26.
Legend  

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.-3929C>T r.(?) p.(=) Unknown - likely benign g.70289732G>A g.70255829G>A AARS(NM_001605.2):c.2185C>T (p.R729W) - AARS_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-3929C>T r.(?) p.(=) Unknown - likely benign g.70289732G>A g.70255829G>A AARS(NM_001605.2):c.2185C>T (p.R729W) - AARS_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3929C>T r.(?) p.(=) Unknown - likely benign g.70289732G>A g.70255829G>A AARS(NM_001605.2):c.2185C>T (p.R729W) - AARS_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3917C>T r.(?) p.(=) Unknown - VUS g.70289720G>A g.70255817G>A AARS(NM_001605.2):c.2197C>T (p.H733Y) - AARS_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3897C>T r.(?) p.(=) Unknown - likely benign g.70289700G>A g.70255797G>A AARS(NM_001605.2):c.2217C>T (p.I739=) - AARS_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3866C>T r.(?) p.(=) Unknown - VUS g.70289669G>A - AARS(NM_001605.2):c.2248C>T (p.R750W) - chr16_005928 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-3863A>G r.(?) p.(=) Unknown - likely pathogenic g.70289666T>C g.70255763T>C AARS(NM_001605.2):c.2251A>G (p.R751G) - AARS_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-2757C>G r.(?) p.(=) Unknown - likely benign g.70288560G>C g.70254657G>C AARS(NM_001605.2):c.2364C>G (p.(Asn788Lys)) - AARS_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2080A>G r.(?) p.(=) Unknown - likely benign g.70287883T>C g.70253980T>C AARS(NM_001605.2):c.2459A>G (p.K820R) - AARS_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2080A>G r.(?) p.(=) Unknown - likely benign g.70287883T>C - AARS(NM_001605.2):c.2459A>G (p.K820R) - AARS_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1903C>T r.(?) p.(=) Unknown - likely benign g.70287706G>A g.70253803G>A AARS(NM_001605.2):c.2521-3C>T - AARS_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-1903C>T r.(?) p.(=) Unknown - likely benign g.70287706G>A g.70253803G>A AARS(NM_001605.2):c.2521-3C>T - AARS_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-1903C>T r.(?) p.(=) Unknown - likely benign g.70287706G>A g.70253803G>A AARS(NM_001605.2):c.2521-3C>T - AARS_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1900G>A r.(?) p.(=) Unknown - VUS g.70287703C>T g.70253800C>T - - AARS_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-1841G>A r.(?) p.(=) Unknown - likely benign g.70287644C>T g.70253741C>T AARS(NM_001605.2):c.2580G>A (p.L860=) - AARS_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1408A>G r.(?) p.(=) Unknown - likely benign g.70287211T>C g.70253308T>C AARS(NM_001605.2):c.2681A>G (p.N894S) - AARS_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-1374T>C r.(?) p.(=) Unknown - benign g.70287177A>G g.70253274A>G AARS(NM_001605.2):c.2715T>C (p.V905=) - AARS_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-1374T>C r.(?) p.(=) Unknown - benign g.70287177A>G g.70253274A>G AARS(NM_001605.2):c.2715T>C (p.V905=) - AARS_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-1373C>G r.(?) p.(=) Unknown - likely benign g.70287176G>C g.70253273G>C AARS(NM_001605.2):c.2716C>G (p.(Pro906Ala)) - AARS_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-937G>A r.(?) p.(=) Unknown - benign g.70286740C>T g.70252837C>T AARS(NM_001605.2):c.2791G>A (p.G931S) - AARS_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-937G>A r.(?) p.(=) Unknown - likely benign g.70286740C>T g.70252837C>T AARS(NM_001605.2):c.2791G>A (p.G931S) - AARS_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-828A>T r.(?) p.(=) Unknown - benign g.70286631T>A g.70252728T>A AARS(NM_001605.2):c.2900A>T (p.K967M) - AARS_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-828A>T r.(?) p.(=) Unknown - likely benign g.70286631T>A g.70252728T>A AARS(NM_001605.2):c.2900A>T (p.K967M) - AARS_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.28G>T r.(?) p.(Gly10Cys) Unknown - likely benign g.70285776C>A g.70251873C>A EXOSC6(NM_058219.2):c.28G>T (p.(Gly10Cys)) - AARS_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.404G>A r.(?) p.(Arg135His) Unknown - VUS g.70285400C>T g.70251497C>T EXOSC6(NM_058219.2):c.404G>A (p.(Arg135His)) - EXOSC6_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.404G>C r.(?) p.(Arg135Pro) Unknown - VUS g.70285400C>G g.70251497C>G EXOSC6(NM_058219.2):c.404G>C (p.(Arg135Pro)) - EXOSC6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
Legend