Full data view for gene CLN8

An NCL gene variant database
Information The variants shown are described using the NM_018941.3 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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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.70C>G r.(70c>g) p.(Arg24Gly) Parent #1 - likely pathogenic g.1719290C>G g.1771124C>G p.Arg24Gly - CLN8_000056 Finnish patient: In association with p.Gly237Arg = EPMR or even milder PubMed: Siintola 2006a, copied from {DB:CNL} - rs104894064 Germline - - - - - DNA SEQ - - CLN 16828266-? PubMed: Siintola 2006a, copied from Batten disease database - - - Finland - - - - - 1 Johan den Dunnen
+?/. - c.70C>G r.(70c>g) p.(Arg24Gly) Both (homozygous) - likely pathogenic g.1719290C>G g.1771124C>G p.Arg24Gly - CLN8_000056 Founder effect for EPMR in Finland. carrier freq in Finland 1:1135; 1:146 in Kalnuu PubMed: Ranta 1999, copied from {DB:CNL} - rs104894064 Germline - - - - - DNA SEQ - - CLN 10508524-? PubMed: Ranta 1999, copied from Batten disease database founder effect, 22 patients - - Finland - - - - - 1 Johan den Dunnen
+?/. - c.70C>G r.(70c>g) p.(Arg24Gly) Both (homozygous) - likely pathogenic g.1719290C>G g.1771124C>G p.Arg24Gly - CLN8_000056 Founder effect for EPMR in Finland. carrier freq in Finland 1:1135; 1:146 in Kalnuu PubMed: Ranta 1999, copied from {DB:CNL} - rs104894064 Germline - - - - - DNA SEQ - - CLN 10508524-? PubMed: Ranta 1999, copied from Batten disease database founder effect, 22 patients - - Finland - - - - - 1 Johan den Dunnen
+?/. - c.70C>G r.(70c>g) p.(Arg24Gly) Both (homozygous) - likely pathogenic g.1719290C>G g.1771124C>G p.Arg24Gly - CLN8_000056 Founder effect for EPMR in Finland. carrier freq in Finland 1:1135; 1:146 in Kalnuu PubMed: Ranta 1999, copied from {DB:CNL} - rs104894064 Germline - - - - - DNA SEQ - - CLN 10508524-? PubMed: Ranta 1999, copied from Batten disease database founder effect, 22 patients - - Finland - - - - - 1 Johan den Dunnen
+?/. - c.70C>G r.(70c>g) p.(Arg24Gly) Both (homozygous) - likely pathogenic g.1719290C>G g.1771124C>G p.Arg24Gly - CLN8_000056 Founder effect for EPMR in Finland. carrier freq in Finland 1:1135; 1:146 in Kalnuu PubMed: Ranta 1999, copied from {DB:CNL} - rs104894064 Germline - - - - - DNA SEQ - - CLN 10508524-? PubMed: Ranta 1999, copied from Batten disease database founder effect, 22 patients - - Finland - - - - - 1 Johan den Dunnen
+?/. - c.70C>G r.(70c>g) p.(Arg24Gly) Both (homozygous) - likely pathogenic g.1719290C>G g.1771124C>G p.Arg24Gly - CLN8_000056 Founder effect for EPMR in Finland. carrier freq in Finland 1:1135; 1:146 in Kalnuu PubMed: Ranta 1999, copied from {DB:CNL} - rs104894064 Germline - - - - - DNA SEQ - - CLN 10508524-? PubMed: Ranta 1999, copied from Batten disease database founder effect, 22 patients - - Finland - - - - - 1 Johan den Dunnen
+?/. - c.70C>G r.(70c>g) p.(Arg24Gly) Both (homozygous) - likely pathogenic g.1719290C>G g.1771124C>G p.Arg24Gly - CLN8_000056 Founder effect for EPMR in Finland. carrier freq in Finland 1:1135; 1:146 in Kalnuu PubMed: Ranta 1999, copied from {DB:CNL} - rs104894064 Germline - - - - - DNA SEQ - - CLN 10508524-? PubMed: Ranta 1999, copied from Batten disease database founder effect, 22 patients - - Finland - - - - - 1 Johan den Dunnen
+?/. - c.70C>G r.(70c>g) p.(Arg24Gly) Both (homozygous) - likely pathogenic g.1719290C>G g.1771124C>G p.Arg24Gly - CLN8_000056 Founder effect for EPMR in Finland. carrier freq in Finland 1:1135; 1:146 in Kalnuu PubMed: Ranta 1999, copied from {DB:CNL} - rs104894064 Germline - - - - - DNA SEQ - - CLN 10508524-? PubMed: Ranta 1999, copied from Batten disease database founder effect, 22 patients - - Finland - - - - - 1 Johan den Dunnen
+?/. - c.70C>G r.(70c>g) p.(Arg24Gly) Both (homozygous) - likely pathogenic g.1719290C>G g.1771124C>G p.Arg24Gly - CLN8_000056 Founder effect for EPMR in Finland. carrier freq in Finland 1:1135; 1:146 in Kalnuu PubMed: Ranta 1999, copied from {DB:CNL} - rs104894064 Germline - - - - - DNA SEQ - - CLN 10508524-? PubMed: Ranta 1999, copied from Batten disease database founder effect, 22 patients - - Finland - - - - - 1 Johan den Dunnen
+?/. - c.70C>G r.(70c>g) p.(Arg24Gly) Both (homozygous) - likely pathogenic g.1719290C>G g.1771124C>G p.Arg24Gly - CLN8_000056 Founder effect for EPMR in Finland. carrier freq in Finland 1:1135; 1:146 in Kalnuu PubMed: Ranta 1999, copied from {DB:CNL} - rs104894064 Germline - - - - - DNA SEQ - - CLN 10508524-? PubMed: Ranta 1999, copied from Batten disease database founder effect, 22 patients - - Finland - - - - - 1 Johan den Dunnen
+?/. - c.70C>G r.(70c>g) p.(Arg24Gly) Both (homozygous) - likely pathogenic g.1719290C>G g.1771124C>G p.Arg24Gly - CLN8_000056 Founder effect for EPMR in Finland. carrier freq in Finland 1:1135; 1:146 in Kalnuu PubMed: Ranta 1999, copied from {DB:CNL} - rs104894064 Germline - - - - - DNA SEQ - - CLN 10508524-? PubMed: Ranta 1999, copied from Batten disease database founder effect, 22 patients - - Finland - - - - - 1 Johan den Dunnen
+?/. - c.70C>G r.(70c>g) p.(Arg24Gly) Both (homozygous) - likely pathogenic g.1719290C>G g.1771124C>G p.Arg24Gly - CLN8_000056 Founder effect for EPMR in Finland. carrier freq in Finland 1:1135; 1:146 in Kalnuu PubMed: Ranta 1999, copied from {DB:CNL} - rs104894064 Germline - - - - - DNA SEQ - - CLN 10508524-? PubMed: Ranta 1999, copied from Batten disease database founder effect, 22 patients - - Finland - - - - - 1 Johan den Dunnen
+?/. - c.70C>G r.(70c>g) p.(Arg24Gly) Both (homozygous) - likely pathogenic g.1719290C>G g.1771124C>G p.Arg24Gly - CLN8_000056 Founder effect for EPMR in Finland. carrier freq in Finland 1:1135; 1:146 in Kalnuu PubMed: Ranta 1999, copied from {DB:CNL} - rs104894064 Germline - - - - - DNA SEQ - - CLN 10508524-? PubMed: Ranta 1999, copied from Batten disease database founder effect, 22 patients - - Finland - - - - - 1 Johan den Dunnen
+?/. - c.70C>G r.(70c>g) p.(Arg24Gly) Both (homozygous) - likely pathogenic g.1719290C>G g.1771124C>G p.Arg24Gly - CLN8_000056 Founder effect for EPMR in Finland. carrier freq in Finland 1:1135; 1:146 in Kalnuu PubMed: Ranta 1999, copied from {DB:CNL} - rs104894064 Germline - - - - - DNA SEQ - - CLN 10508524-? PubMed: Ranta 1999, copied from Batten disease database founder effect, 22 patients - - Finland - - - - - 1 Johan den Dunnen
+?/. - c.70C>G r.(70c>g) p.(Arg24Gly) Both (homozygous) - likely pathogenic g.1719290C>G g.1771124C>G p.Arg24Gly - CLN8_000056 Founder effect for EPMR in Finland. carrier freq in Finland 1:1135; 1:146 in Kalnuu PubMed: Ranta 1999, copied from {DB:CNL} - rs104894064 Germline - - - - - DNA SEQ - - CLN 10508524-? PubMed: Ranta 1999, copied from Batten disease database founder effect, 22 patients - - Finland - - - - - 1 Johan den Dunnen
+?/. - c.70C>G r.(70c>g) p.(Arg24Gly) Both (homozygous) - likely pathogenic g.1719290C>G g.1771124C>G p.Arg24Gly - CLN8_000056 Founder effect for EPMR in Finland. carrier freq in Finland 1:1135; 1:146 in Kalnuu PubMed: Ranta 1999, copied from {DB:CNL} - rs104894064 Germline - - - - - DNA SEQ - - CLN 10508524-? PubMed: Ranta 1999, copied from Batten disease database founder effect, 22 patients - - Finland - - - - - 1 Johan den Dunnen
+?/. - c.70C>G r.(70c>g) p.(Arg24Gly) Both (homozygous) - likely pathogenic g.1719290C>G g.1771124C>G p.Arg24Gly - CLN8_000056 Founder effect for EPMR in Finland. carrier freq in Finland 1:1135; 1:146 in Kalnuu PubMed: Ranta 1999, copied from {DB:CNL} - rs104894064 Germline - - - - - DNA SEQ - - CLN 10508524-? PubMed: Ranta 1999, copied from Batten disease database founder effect, 22 patients - - Finland - - - - - 1 Johan den Dunnen
+?/. - c.70C>G r.(70c>g) p.(Arg24Gly) Both (homozygous) - likely pathogenic g.1719290C>G g.1771124C>G p.Arg24Gly - CLN8_000056 Founder effect for EPMR in Finland. carrier freq in Finland 1:1135; 1:146 in Kalnuu PubMed: Ranta 1999, copied from {DB:CNL} - rs104894064 Germline - - - - - DNA SEQ - - CLN 10508524-? PubMed: Ranta 1999, copied from Batten disease database founder effect, 22 patients - - Finland - - - - - 1 Johan den Dunnen
+?/. - c.70C>G r.(70c>g) p.(Arg24Gly) Both (homozygous) - likely pathogenic g.1719290C>G g.1771124C>G p.Arg24Gly - CLN8_000056 Founder effect for EPMR in Finland. carrier freq in Finland 1:1135; 1:146 in Kalnuu PubMed: Ranta 1999, copied from {DB:CNL} - rs104894064 Germline - - - - - DNA SEQ - - CLN 10508524-? PubMed: Ranta 1999, copied from Batten disease database founder effect, 22 patients - - Finland - - - - - 1 Johan den Dunnen
+?/. - c.70C>G r.(70c>g) p.(Arg24Gly) Both (homozygous) - likely pathogenic g.1719290C>G g.1771124C>G p.Arg24Gly - CLN8_000056 Founder effect for EPMR in Finland. carrier freq in Finland 1:1135; 1:146 in Kalnuu PubMed: Ranta 1999, copied from {DB:CNL} - rs104894064 Germline - - - - - DNA SEQ - - CLN 10508524-? PubMed: Ranta 1999, copied from Batten disease database founder effect, 22 patients - - Finland - - - - - 1 Johan den Dunnen
+?/. - c.70C>G r.(70c>g) p.(Arg24Gly) Both (homozygous) - likely pathogenic g.1719290C>G g.1771124C>G p.Arg24Gly - CLN8_000056 Founder effect for EPMR in Finland. carrier freq in Finland 1:1135; 1:146 in Kalnuu PubMed: Ranta 1999, copied from {DB:CNL} - rs104894064 Germline - - - - - DNA SEQ - - CLN 10508524-? PubMed: Ranta 1999, copied from Batten disease database founder effect, 22 patients - - Finland - - - - - 1 Johan den Dunnen
+?/. - c.70C>G r.(70c>g) p.(Arg24Gly) Both (homozygous) - likely pathogenic g.1719290C>G g.1771124C>G p.Arg24Gly - CLN8_000056 Founder effect for EPMR in Finland. carrier freq in Finland 1:1135; 1:146 in Kalnuu PubMed: Ranta 1999, copied from {DB:CNL} - rs104894064 Germline - - - - - DNA SEQ - - CLN 10508524-? PubMed: Ranta 1999, copied from Batten disease database founder effect, 22 patients - - Finland - - - - - 1 Johan den Dunnen
+?/. - c.70C>G r.(70c>g) p.(Arg24Gly) Both (homozygous) - likely pathogenic g.1719290C>G g.1771124C>G p.Arg24Gly - CLN8_000056 Founder effect for EPMR in Finland. carrier freq in Finland 1:1135; 1:146 in Kalnuu PubMed: Ranta 1999, copied from {DB:CNL} - rs104894064 Germline - - - - - DNA SEQ - - CLN 10508524-? PubMed: Ranta 1999, copied from Batten disease database founder effect, 22 patients - - Finland - - - - - 1 Johan den Dunnen
+/. - c.70C>G r.(?) p.(Arg24Gly) Unknown - pathogenic g.1719290C>G g.1771124C>G CLN8(NM_018941.4):c.70C>G (p.R24G) - CLN8_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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