Full data view for gene RSPH9

Information The variants shown are described using the NM_152732.4 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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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.-18A>G r.(?) p.(=) Unknown - benign g.43612818A>G g.43645081A>G RSPH9(NM_001193341.1):c.-18A>G - RSPH9_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2T>C r.(?) p.(Met1?) Unknown - likely pathogenic g.43612837T>C g.43645100T>C RSPH9(NM_152732.5):c.2T>C (p.M1?) - RSPH9_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2T>C r.(?) p.(Met1?) Unknown - pathogenic g.43612837T>C - RSPH9(NM_152732.5):c.2T>C (p.M1?) - RSPH9_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.25T>G r.(?) p.(Ser9Ala) Unknown - VUS g.43612860T>G - RSPH9(NM_152732.5):c.25T>G (p.S9A) - MAD2L1BP_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 1 c.117C>A r.(?) p.(Tyr39*) Both (homozygous) - VUS g.43612952C>A g.43645215C>A - - RSPH9_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CILD - - - - - - - - - - - 1 Christopher Watson
-?/. - c.138C>T r.(?) p.(=) Unknown - likely benign g.43612973C>T - RSPH9(NM_152732.5):c.138C>T (p.F46=) - MAD2L1BP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.276G>A r.(?) p.(Met92Ile) Unknown - likely benign g.43618160G>A g.43650423G>A RSPH9(NM_001193341.1):c.276G>A (p.M92I) - RSPH9_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.281C>T r.(?) p.(Ala94Val) Unknown - likely benign g.43618165C>T g.43650428C>T RSPH9(NM_001193341.1):c.281C>T (p.A94V) - MRPS18A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.365G>A r.(?) p.(Gly122Asp) Unknown - VUS g.43618249G>A g.43650512G>A - - RSPH9_000009 - PubMed: Alsamri 2021 - rs1195999841 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.416G>A r.(?) p.(Arg139His) Unknown - VUS g.43623321G>A - RSPH9(NM_152732.4):c.416G>A (p.R139H) - MRPS18A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.421G>A r.(?) p.(Val141Met) Unknown - likely benign g.43623326G>A - RSPH9(NM_152732.5):c.421G>A (p.V141M) - MRPS18A_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.470G>C r.(?) p.(Gly157Ala) Unknown - VUS g.43623375G>C g.43655638G>C RSPH9(NM_001193341.1):c.425G>C (p.G142A) - MRPS18A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.471C>T r.(?) p.(Gly157=) Unknown - likely benign g.43623376C>T - RSPH9(NM_152732.5):c.471C>T (p.G157=) - MRPS18A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.512G>A r.(?) p.(Arg171Gln) Parent #1 - VUS g.43623417G>A g.43655680G>A - - RSPH9_000008 conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs201032669 Germline - 3/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
-?/. - c.671-4259C>T r.(=) p.(=) Unknown - likely benign g.43634267C>T g.43666530C>T RSPH9(NM_001193341.1):c.722+10C>T - RSPH9_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.745T>A r.(?) p.(Phe249Ile) Unknown - VUS g.43638600T>A - RSPH9(NM_001193341.1):c.797T>A (p.L266H) - MRPS18A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.781G>A r.(?) p.(Val261Ile) Unknown - benign g.43638636G>A g.43670899G>A RSPH9(NM_001193341.1):c.833G>A (p.R278H) - RSPH9_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 5 c.804_806del r.(?) p.(Lys268del) Paternal (confirmed) - pathogenic g.43638659_43638661del g.43670922_43670924del 801_803delGAA - RSPH9_000002 shared 1.9 Mb IBD region; not in 126 control chromosomes PubMed: Castleman 2009 - - Germline yes - - - - DNA SEQ ? - CILD - PubMed: Castleman 2009 4-generation family, 3 affecteds, unaffected carrier parents - yes United Arab Emirates Bedouin (Bani Tameem) - - - - 3 Johan den Dunnen
+/? 5 c.804_806del r.(?) p.(Lys268del) Maternal (confirmed) - pathogenic g.43638659_43638661del g.43670922_43670924del 801_803delGAA - RSPH9_000002 shared 1.9 Mb IBD region; not in 126 control chromosomes PubMed: Castleman 2009 - - Germline yes - - - - DNA SEQ ? - CILD - PubMed: Castleman 2009 4-generation family, 3 affecteds, unaffected carrier parents - yes United Arab Emirates Bedouin (Bani Tameem) - - - - 3 Johan den Dunnen
+/? 5 c.804_806del r.(?) p.(Lys268del) Paternal (confirmed) - pathogenic g.43638659_43638661del g.43670922_43670924del 801_803delGAA - RSPH9_000002 shared 1.9 Mb IBD region; not in 126 control chromosomes PubMed: Castleman 2009 - - Germline yes - - - - DNA SEQ ? - CILD - PubMed: Castleman 2009 3-generation family, 5 affecteds, unaffected carrier parents - yes Israel Bedouin - - - - 5 Johan den Dunnen
+/? 5 c.804_806del r.(?) p.(Lys268del) Maternal (confirmed) - pathogenic g.43638659_43638661del g.43670922_43670924del 801_803delGAA - RSPH9_000002 shared 1.9 Mb IBD region; not in 126 control chromosomes PubMed: Castleman 2009 - - Germline yes - - - - DNA SEQ ? - CILD - PubMed: Castleman 2009 3-generation family, 5 affecteds, unaffected carrier parents - yes Israel Bedouin - - - - 5 Johan den Dunnen
+/? 5 c.804_806del r.(?) p.(Lys268del) Unknown - pathogenic g.43638659_43638661del g.43670922_43670924del 801_803delGAA - RSPH9_000002 3 heterozygous males PubMed: Castleman 2009 - - Germline - 3/320 chromosomes - - - DNA SEQ ? - Healthy/Control - - controls - - United Arab Emirates Arab - - - - 3 Johan den Dunnen
?/. - c.829T>C r.(?) p.(*277Glnext*9) Unknown - VUS g.43638684T>C - RSPH9(NM_152732.5):c.829T>C (p.*277Qext*9) - MRPS18A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1378A>G r.(=) p.(=) Unknown - benign g.43640064A>G g.43672327A>G MRPS18A(NM_018135.4):c.447-421T>C - MRPS18A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1413A>G r.(=) p.(=) Unknown - benign g.43640099A>G g.43672362A>G MRPS18A(NM_018135.4):c.447-456T>C - MRPS18A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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