Full data view for gene RPS6KC1

Information The variants shown are described using the NM_012424.3 transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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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     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.415C>T r.(?) p.(Pro139Ser) Paternal (confirmed) - pathogenic (recessive) g.213290695C>T g.213117353C>T - - RPS6KC1_000005 - PubMed: Planas-Serra 2025, Journal: Planas-Serra 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Fam5PatII3 PubMed: Planas-Serra 2025, Journal: Planas-Serra 2025 2-generation family, 1 affected fetus (several failed in vitro fertilizations), unaffected heterozygous carrier parents F no Estonia - <0d - - - 1 Johan den Dunnen
+/. - c.738A>C r.(?) p.(Leu246Phe) Maternal (confirmed) - pathogenic (recessive) g.213303135A>C g.213129792A>C - - RPS6KC1_000006 - PubMed: Planas-Serra 2025, Journal: Planas-Serra 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Fam5PatII3 PubMed: Planas-Serra 2025, Journal: Planas-Serra 2025 2-generation family, 1 affected fetus (several failed in vitro fertilizations), unaffected heterozygous carrier parents F no Estonia - <0d - - - 1 Johan den Dunnen
+/. - c.895del r.(?) p.(Arg299GlyfsTer24) Maternal (confirmed) - pathogenic (recessive) g.213341260del g.213167917del 895delC - RPS6KC1_000007 - PubMed: Planas-Serra 2025, Journal: Planas-Serra 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Fam4PatII1 PubMed: Planas-Serra 2025, Journal: Planas-Serra 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Spain - - - - - 1 Johan den Dunnen
-/. - c.956C>T r.(?) p.(Pro319Leu) Unknown - benign g.213349747C>T g.213176404C>T RPS6KC1(NM_012424.6):c.956C>T (p.P319L) - RPS6KC1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1045-7461_*146846del r.? p.? Paternal (confirmed) - VUS g.213396379_213592823del g.213223036_213419480del hg19 chr1:g.213396378_213592823del - RPS6KC1_000004 candidate disease gene PubMed: Charng 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam025PatBAB6797 PubMed: Charng 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.1550A>T r.(?) p.(Asn517Ile) Both (homozygous) - pathogenic (recessive) g.213414369A>T g.213241026A>T - - RPS6KC1_000008 - PubMed: Planas-Serra 2025, Journal: Planas-Serra 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Fam3PatII6 PubMed: Planas-Serra 2025, Journal: Planas-Serra 2025 2-generation family, 3 affected sisters (+ three miscarriages), unaffected heterozygous carrier parents F yes United Kingdom (Great Britain) Iran - - - - 3 Johan den Dunnen
+/. - c.1551_1563del r.(?) p.(Asn517LysfsTer9) Paternal (confirmed) - pathogenic (recessive) g.213414370_213414382del g.213241027_213241039del 1551_1563dedelGCAATGAATATGG - RPS6KC1_000009 - PubMed: Planas-Serra 2025, Journal: Planas-Serra 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Fam4PatII1 PubMed: Planas-Serra 2025, Journal: Planas-Serra 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Spain - - - - - 1 Johan den Dunnen
?/. - c.2074G>A r.(?) p.(Gly692Ser) Maternal (confirmed) - VUS g.213415529G>A g.213242186G>A - - RPS6KC1_000011 ACMG PM2; candidate disease gene PubMed: Charng 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam025PatBAB6797 PubMed: Charng 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.2303_2304del r.(?) p.(Tyr768CysfsTer14) Both (homozygous) - pathogenic (recessive) g.213415122_213415123del g.213241779_213241780del - - RPS6KC1_000010 - PubMed: Planas-Serra 2025, Journal: Planas-Serra 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Fam1PatII1 PubMed: Planas-Serra 2025, Journal: Planas-Serra 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Italy - - - - - 1 Johan den Dunnen
+/. - c.2783G>C r.(?) :p.(Arg928Pro) Both (homozygous) - pathogenic (recessive) g.213415602G>C g.213242259G>C - - RPS6KC1_000012 - PubMed: Planas-Serra 2025, Journal: Planas-Serra 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Fam2PatII1 PubMed: Planas-Serra 2025, Journal: Planas-Serra 2025 2-generation family, 5 affected (4F, M) and three stillborns, unaffected heterozygous carrier parents M - Finland - - - - - 5 Johan den Dunnen
+/. - c.2783G>C r.(?) :p.(Arg928Pro) Both (homozygous) - pathogenic (recessive) g.213415602G>C g.213242259G>C - - RPS6KC1_000012 - PubMed: Planas-Serra 2025, Journal: Planas-Serra 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Fam2PatII5 PubMed: Planas-Serra 2025, Journal: Planas-Serra 2025 sister F - Finland - - - - - 1 Johan den Dunnen
+/. - c.2783G>C r.(?) :p.(Arg928Pro) Both (homozygous) - pathogenic (recessive) g.213415602G>C g.213242259G>C - - RPS6KC1_000012 - PubMed: Planas-Serra 2025, Journal: Planas-Serra 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Fam2PatII6 PubMed: Planas-Serra 2025, Journal: Planas-Serra 2025 sister F - Finland - - - - - 1 Johan den Dunnen
+/. - c.2783G>C r.(?) :p.(Arg928Pro) Both (homozygous) - pathogenic (recessive) g.213415602G>C g.213242259G>C - - RPS6KC1_000012 - PubMed: Planas-Serra 2025, Journal: Planas-Serra 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Fam2PatII11 PubMed: Planas-Serra 2025, Journal: Planas-Serra 2025 sister F - Finland - - - - - 1 Johan den Dunnen
-?/. - c.2887A>G r.(?) p.(Ile963Val) Unknown - likely benign g.213415977A>G - RPS6KC1(NM_012424.3):c.2887A>G (p.(Ile963Val)) - RPS6KC1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2905G>A r.(?) p.(Ala969Thr) Both (homozygous) - pathogenic (recessive) g.213415995G>A g.213242652G>A - - RPS6KC1_000013 - PubMed: Planas-Serra 2025, Journal: Planas-Serra 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Fam6PatII1 PubMed: Planas-Serra 2025, Journal: Planas-Serra 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.2909del r.(?) p.(Pro970GlnfsTer39) Both (homozygous) - pathogenic (recessive) g.213415999del g.213242656del - - RPS6KC1_000014 - PubMed: Planas-Serra 2025, Journal: Planas-Serra 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Fam7PatII2 PubMed: Planas-Serra 2025, Journal: Planas-Serra 2025 2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents M no - Asia - - - - 3 Johan den Dunnen
+/. - c.2909del r.(?) p.(Pro970GlnfsTer39) Both (homozygous) - pathogenic (recessive) g.213415999del g.213242656del - - RPS6KC1_000014 - PubMed: Planas-Serra 2025, Journal: Planas-Serra 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Fam7PatII3 PubMed: Planas-Serra 2025, Journal: Planas-Serra 2025 sister F no - Asia - - - - 1 Johan den Dunnen
+/. - c.2950del r.(?) p.(Trp984GlyfsTer25) Both (homozygous) - pathogenic (recessive) g.213434939del g.213261596del - - RPS6KC1_000015 - PubMed: Planas-Serra 2025, Journal: Planas-Serra 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Fam8PatII2 PubMed: Planas-Serra 2025, Journal: Planas-Serra 2025 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M yes Iran - - - - - 2 Johan den Dunnen
+/. - c.2950del r.(?) p.(Trp984GlyfsTer25) Both (homozygous) - pathogenic (recessive) g.213434939del g.213261596del - - RPS6KC1_000015 - PubMed: Planas-Serra 2025, Journal: Planas-Serra 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Fam8PatII3 PubMed: Planas-Serra 2025, Journal: Planas-Serra 2025 sister F yes Iran - - - - - 1 Johan den Dunnen
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