Full data view for gene SPAG1

Information The variants shown are described using the NM_172218.2 transcript reference sequence.

23 entries on 1 page. Showing entries 1 - 23.
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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.668_670del r.(?) p.(Gly223del) Unknown - VUS g.101196928_101196930del - SPAG1(NM_003114.5):c.668_670del (p.(Gly223del)) - SPAG1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.692A>G r.(?) p.(Tyr231Cys) Unknown - VUS g.101196952A>G - SPAG1(NM_003114.5):c.692A>G (p.(Tyr231Cys)) - SPAG1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.844C>T r.(?) p.(Arg282Cys) Unknown - VUS g.101203629C>T - SPAG1(NM_003114.5):c.844C>T (p.(Arg282Cys)) - SPAG1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.957T>A r.(?) p.(Val319=) Unknown - likely benign g.101206357T>A g.100194129T>A SPAG1(NM_003114.4):c.957T>A (p.V319=) - SPAG1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.957T>A r.(?) p.(Val319=) Unknown - likely benign g.101206357T>A g.100194129T>A - - SPAG1_000001 - PubMed: Alsamri 2021 - rs146528350 Germline - - - - - DNA SEQ-NG - 28-gene panel PCD CILD - PubMed: Alsamri 2021 analysis 66 patients with significant clinical respiratory problems - - United Arab Emirates - - - - - 1 Johan den Dunnen
+/. 11 c.1285_1294dup r.(?) p.(Ala432Glyfs*53) Paternal (confirmed) ACMG pathogenic (recessive) g.101225506_101225515dup g.100213278_100213287dup - - SPAG1_000018 - - ClinVar-1458124 rs918324226 Germline yes - - - - DNA SEQ-NG-I peripheral blood WES CILD - - - M - - (not applicable) white - - - - 1 Marketa Wayhelova
-?/. - c.1435+4G>C r.spl? p.? Unknown - likely benign g.101225660G>C - SPAG1(NM_003114.5):c.1435+4G>C - SPAG1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1435+16C>T r.(?) p.(=) Unknown - likely benign g.101225672C>T g.100213444C>T - - SPAG1_000019 - PubMed: Alsamri 2021 - rs148767962 Germline - - - - - DNA SEQ-NG - 28-gene panel PCD CILD - PubMed: Alsamri 2021 analysis 66 patients with significant clinical respiratory problems - - United Arab Emirates - - - - - 1 Johan den Dunnen
./. - c.1436-112_*355938dup - - Paternal (confirmed) - pathogenic g.101225935_101609188dup g.100213707_100596960dup - - ANKRD46_000001 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
-?/. - c.1542G>A r.(?) p.(Leu514=) Unknown - likely benign g.101232513G>A - SPAG1(NM_003114.4):c.1542G>A (p.L514=) - SPAG1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1759C>T r.(?) p.(Pro587Ser) Parent #1 - benign g.101237471C>T g.100225243C>T - - SPAG1_000010 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs141555196 Germline - 5/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
-?/. - c.1766C>T r.(?) p.(Ser589Phe) Unknown - likely benign g.101237478C>T g.100225250C>T SPAG1(NM_003114.4):c.1766C>T (p.S589F) - SPAG1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1790C>T r.(?) p.(Pro597Leu) Unknown - likely benign g.101237502C>T g.100225274C>T SPAG1(NM_003114.4):c.1790C>T (p.P597L) - SPAG1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1838G>A r.(?) p.(Arg613His) Unknown - likely benign g.101237550G>A - SPAG1(NM_003114.4):c.1838G>A (p.R613H) - SPAG1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1988+2C>G r.spl? p.? Unknown - likely pathogenic g.101243518C>G - SPAG1(NM_003114.5):c.1988+2C>G - SPAG1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1989-8T>C r.(=) p.(=) Unknown - likely benign g.101245631T>C - SPAG1(NM_003114.5):c.1989-8T>C - SPAG1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2014C>T r.(?) p.(Gln672*) Unknown - pathogenic g.101245664C>T - SPAG1(NM_172218.3):c.2014C>T (p.Q672*) - SPAG1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 16 c.2014C>T r.(?) p.(Gln672*) Maternal (confirmed) ACMG pathogenic (recessive) g.101245664C>T g.100233436C>T - - SPAG1_000017 - - ClinVar-88683 rs201740530 Germline yes - - - - DNA SEQ-NG-I peripheral blood WES CILD - - - M - - (not applicable) white - - - - 1 Marketa Wayhelova
?/. - c.2265A>T r.(?) p.(Lys755Asn) Unknown - VUS g.101251617A>T g.100239389A>T SPAG1(NM_003114.4):c.2265A>T (p.K755N) - SPAG1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2479C>T r.(?) p.(His827Tyr) Parent #1 - likely benign g.101252829C>T g.100240601C>T - - SPAG1_000011 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs6510 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.2650-2A>T r.spl? p.? Unknown - likely benign g.101253117A>T g.100240889A>T SPAG1(NM_003114.4):c.2650-2A>T (p.?) - SPAG1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2650-2_2653del r.spl? p.? Unknown - likely benign g.101253117_101253122del g.100240889_100240894del SPAG1(NM_003114.4):c.2650-2_2653del (p.?) - SPAG1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2655G>T r.(?) p.(Met885Ile) Unknown - likely benign g.101253124G>T g.100240896G>T SPAG1(NM_003114.4):c.2655G>T (p.(Met885Ile)) - SPAG1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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