Full data view for gene RPS24

Information The variants shown are described using the NM_001142285.1 transcript reference sequence.

39 entries on 1 page. Showing entries 1 - 39.
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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.(?_-51)_(3+52_?)del r.? p.0? Unknown - likely pathogenic g.(?_79793609)_(79793714_?)del - - - RPS24_000002 putative deletion detected by WES CNV analysis PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ-NG - WES DBA 30503522-DBAputdel57 PubMed: Ulirsch 2018 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.(?_-51)_(3+52_?)del r.? p.0? Unknown - likely pathogenic g.(?_79793609)_(79793714_?)del - - - RPS24_000002 putative deletion detected by WES CNV analysis PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ-NG - WES DBA 30503522-DBAputdel58 PubMed: Ulirsch 2018 - - - - - - - - - 1 Johan den Dunnen
?/. - c.-13A>C r.(?) p.(=) Unknown - VUS g.79793647A>C - RPS24(NM_033022.4):c.-13A>C - POLR3A_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.0 r.0 p.0 Parent #1 - pathogenic (dominant) g.(?_79793518)_(79816571_?)del - - - RPS24_000001 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, PCRq, SEQ-NG - WES DBA 30503522-PatDBA029 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.0 r.0 p.0 Parent #1 - pathogenic (dominant) g.(?_79793518)_(79816571_?)del - - - RPS24_000001 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, PCRq, SEQ-NG - WES DBA 30503522-PatDBA189 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.0 r.0 p.0 Parent #1 - pathogenic (dominant) g.(?_79793518)_(79816571_?)del - - - RPS24_000001 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, PCRq, SEQ-NG - WES DBA 30503522-PatDBA198 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.0 r.0 p.0 Parent #1 - pathogenic (dominant) g.(?_79793518)_(79816571_?)del - - - RPS24_000001 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, PCRq, SEQ-NG - WES DBA 30503522-PatDBA230 PubMed: Ulirsch 2018 DBA case, uunaffected parents - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.? - - - CYP2C9_001038 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA063 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.1A>G r.(?) p.0? Parent #1 - pathogenic (dominant) g.79793660A>G g.78033902A>G - - RPS24_000003 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA211 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.1A>G r.(?) p.(Met1?) Unknown - pathogenic (dominant) g.79793660A>G - - - RPS24_000003 - PubMed: Badhai 2009 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA patient PubMed: Badhai 2009 - F - Sweden - - - - - 1 Johan den Dunnen
+/. - c.2T>C r.(?) p.0? Parent #1 - pathogenic (dominant) g.79793661T>C g.78033903T>C - - RPS24_000004 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA056 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. 1i_2 c.4-14_6delinsTACGGATAG r.4-26del p.Asn2_Met23del Paternal (confirmed) - pathogenic (dominant) g.79795096_79795112delinsTACGGATAG - - - RPS24_000020 - PubMed: Gazda 2006 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - DBA PatD3 PubMed: Gazda 2006 family, affected father/son M - United States - - - - - 2 Johan den Dunnen
+?/. - c.(?_4-2)_(69+2_?)del r.? p.? Unknown - likely pathogenic g.(?_79795108)_(79795177_?)del - - - RPS24_000005 putative deletion detected by WES CNV analysis PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ-NG - WES DBA 30503522-DBAputdel59 PubMed: Ulirsch 2018 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.(?_4-2)_(69+2_?)del r.? p.? Unknown - likely pathogenic g.(?_79795108)_(79795177_?)del - - - RPS24_000005 putative deletion detected by WES CNV analysis PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ-NG - WES DBA 30503522-DBAputdel60 PubMed: Ulirsch 2018 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.(?_4-2)_(69+2_?)del r.? p.? Unknown - likely pathogenic g.(?_79795108)_(79795177_?)del - - - RPS24_000005 putative deletion detected by WES CNV analysis PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ-NG - WES DBA 30503522-DBAputdel61 PubMed: Ulirsch 2018 - - - - - - - - - 1 Johan den Dunnen
+/. - c.20T>G r.(?) p.(Ile7Ser) Parent #1 - pathogenic (dominant) g.79795126T>G g.78035368T>G - - RPS24_000006 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA304 PubMed: Ulirsch 2018 DBA case with affected relative - - - - - - - - 2 Johan den Dunnen
+/. - c.20T>G r.(?) p.(Ile7Ser) Parent #1 - pathogenic (dominant) g.79795126T>G g.78035368T>G - - RPS24_000006 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA309 PubMed: Ulirsch 2018 DBA case with affected relative - - - - - - - - 2 Johan den Dunnen
+/. - c.20T>G r.(?) p.(Ile7Ser) Parent #1 - pathogenic (dominant) g.79795126T>G g.78035368T>G - - RPS24_000006 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA310 PubMed: Ulirsch 2018 DBA case with affected relative - - - - - - - - 2 Johan den Dunnen
+/. - c.20T>G r.(?) p.(Ile7Ser) Parent #1 - pathogenic (dominant) g.79795126T>G g.78035368T>G - - RPS24_000006 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA311 PubMed: Ulirsch 2018 DBA case with affected relative - - - - - - - - 2 Johan den Dunnen
+/. 2 c.46C>T r.(?) p.(Arg16*) Unknown - pathogenic (dominant) g.79795152C>T - - - RPS24_000019 - PubMed: Gazda 2006 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA PatD2 PubMed: Gazda 2006 - - - United States - - - - - 1 Johan den Dunnen
-?/. - c.60G>A r.(?) p.(Arg20=) Unknown - likely benign g.79795166G>A - RPS24(NM_001026.4):c.60G>A (p.(=)) - RPS24_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.64_66del r.(?) p.(Gln22del) Unknown - pathogenic (dominant) g.79795170_79795172del - 64_66delCAA - RPS24_000021 - PubMed: Quarello 2010 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA patient PubMed: Quarello 2010 - - - Italy - - - - - 1 Johan den Dunnen
+?/. - c.(?_70-2)_(279+2_?)del r.? p.? Unknown - likely pathogenic g.(?_79795267)_(79795480_?)del - - - RPS24_000007 putative deletion detected by WES CNV analysis PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ-NG - WES DBA 30503522-DBAputdel62 PubMed: Ulirsch 2018 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.189T>C r.(?) p.(His63=) Unknown - likely benign g.79795388T>C - RPS24(NM_001142285.1):c.189T>C (p.H63=) - RPS24_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.316C>T r.(?) p.(Gln106*) Parent #1 - pathogenic (dominant) g.79796988C>T g.78037230C>T - - RPS24_000008 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA295 PubMed: Ulirsch 2018 DBA case with affected relative - - - - - - - - 2 Johan den Dunnen
+/. - c.316C>T r.(?) p.(Gln106*) Parent #1 - pathogenic (dominant) g.79796988C>T g.78037230C>T - - RPS24_000008 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA296 PubMed: Ulirsch 2018 DBA case with affected relative - - - - - - - - 2 Johan den Dunnen
+/. - c.316C>T r.(?) p.(Gln106*) Parent #1 - pathogenic (dominant) g.79796988C>T g.78037230C>T - - RPS24_000008 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA297 PubMed: Ulirsch 2018 DBA case with affected relative - - - - - - - - 2 Johan den Dunnen
+/. 4 c.316C>T r.(?) p.(Gln106*) Parent #1 - pathogenic (dominant) g.79796988C>T - - - RPS24_000008 - PubMed: Gazda 2006 - - Germline yes - - - - DNA SEQ - - DBA FamMA-1PatD1 PubMed: Gazda 2006 3-generation family, 5 affected (F, 4M) F;M - United States - - - - - 5 Johan den Dunnen
?/. 4 c.371A>G r.(?) p.(Asn124Ser) Unknown - VUS g.79797043A>G - Asn124Ser - RPS24_000022 variant present in 2 unaffected family members PubMed: Quarello 2010 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA patient PubMed: Quarello 2010 - - - Italy - - - - - 1 Johan den Dunnen
+/. - c.390+1G>A r.spl p.? Parent #1 - pathogenic (dominant) g.79797063G>A g.78037305G>A - - RPS24_000009 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA123 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. 4i c.390+1G>A r.spl p.0? Unknown - pathogenic (dominant) g.79797063G>A g.78037305G>A - - RPS24_000009 - PubMed: Boria 2010 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA Ps24_1 PubMed: Boria 2010 - M - - - - - - - 1 Johan den Dunnen
+?/. - c.(?_390+608)_(390+716_?)del r.? p.? Unknown - likely pathogenic g.(?_79797670)_(79797778_?)del - - - RPS24_000010 putative deletion detected by WES CNV analysis PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ-NG - WES DBA 30503522-DBAputdel63 PubMed: Ulirsch 2018 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.(?_390+608)_(390+716_?)del r.? p.? Unknown - likely pathogenic g.(?_79797670)_(79797778_?)del - - - RPS24_000010 putative deletion detected by WES CNV analysis PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ-NG - WES DBA 30503522-DBAputdel64 PubMed: Ulirsch 2018 - - - - - - - - - 1 Johan den Dunnen
-/. - c.390+2897C>A r.(=) p.(=) Unknown - benign g.79799959C>A - RPS24(NM_001142282.1):c.394-3C>A (p.?) - RPS24_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.(?_390+3309)_(390+3324_?)del r.? p.? Unknown - likely pathogenic g.(?_79800371)_(79800386_?)del - - - RPS24_000011 putative deletion detected by WES CNV analysis PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ-NG - WES DBA 30503522-DBAputdel65 PubMed: Ulirsch 2018 - - - - - - - - - 1 Johan den Dunnen
-/. - c.701A>G r.(?) p.(His234Arg) Unknown - benign g.79814599A>G g.78054841A>G RPS24(NM_001142285.1):c.701A>G (p.H234R) - RPS24_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.711C>T r.(?) p.(Asp237=) Unknown - benign g.79814609C>T g.78054851C>T RPS24(NM_001142285.1):c.711C>T (p.D237=) - RPS24_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.811A>C r.(?) p.(Ile271Leu) Unknown - likely benign g.79814709A>C g.78054951A>C - - RPS24_000018 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.039 - - - DNA SEQ, SEQ-NG - 105 WGS/200 WES Healthy/Control - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.833T>C r.(?) p.(Phe278Ser) Unknown - likely benign g.79814731T>C g.78054973T>C RPS24(NM_001142285.1):c.833T>C (p.F278S) - RPS24_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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