Full data view for gene RSPH4A

Information The variants shown are described using the NM_001010892.2 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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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     
+/? 2i c.921+3_921+6del r.687_921del p.Tyr230Glnfs*8 Paternal (confirmed) - pathogenic g.116944168_116944171del g.116623005_116623008del 921+3_6delAAGT - RSPH4A_000003 - PubMed: Daniels 2013, OMIM:var0006 - - Germline - - - - - DNA, RNA PCR, RT-PCR, SEQ - - CILD - PubMed: Daniels 2013 family, 2 affecteds, unaffected carrier parents F - Puerto Rico Hispanic - - - - 2 Maimoona Zariwala
+/? 2i c.921+3_921+6del r.687_921del p.Tyr230Glnfs*8 Maternal (confirmed) - pathogenic g.116944168_116944171del g.116623005_116623008del 921+3_6delAAGT - RSPH4A_000003 - PubMed: Daniels 2013, OMIM:var0006 - - Germline - - - - - DNA, RNA PCR, RT-PCR, SEQ - - CILD - PubMed: Daniels 2013 family, 2 affecteds, unaffected carrier parents F - Puerto Rico Hispanic - - - - 2 Maimoona Zariwala
+/? 2i c.921+3_921+6del r.spl p.(Tyr230Glnfs?8) Paternal (confirmed) - pathogenic g.116944168_116944171del g.116623005_116623008del 921+3_6delAAGT - RSPH4A_000003 - PubMed: Daniels 2013, OMIM:var0006 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Daniels 2013 family, 2 affecteds, unaffected carrier parents F - Puerto Rico Hispanic - - - - 2 Maimoona Zariwala
+/? 2i c.921+3_921+6del r.spl p.(Tyr230Glnfs?8) Maternal (confirmed) - pathogenic g.116944168_116944171del g.116623005_116623008del 921+3_6delAAGT - RSPH4A_000003 - PubMed: Daniels 2013, OMIM:var0006 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Daniels 2013 family, 2 affecteds, unaffected carrier parents F - Puerto Rico Hispanic - - - - 2 Maimoona Zariwala
+/? 2i c.921+3_921+6del r.spl p.(Tyr230Glnfs?8) Paternal (confirmed) - pathogenic g.116944168_116944171del g.116623005_116623008del 921+3_6delAAGT - RSPH4A_000003 - PubMed: Daniels 2013, OMIM:var0006 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Daniels 2013 unaffected carrier parents F - Puerto Rico Hispanic - - - - 1 Maimoona Zariwala
+/? 2i c.921+3_921+6del r.spl p.(Tyr230Glnfs?8) Maternal (confirmed) - pathogenic g.116944168_116944171del g.116623005_116623008del 921+3_6delAAGT - RSPH4A_000003 - PubMed: Daniels 2013, OMIM:var0006 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Daniels 2013 unaffected carrier parents F - Puerto Rico Hispanic - - - - 1 Maimoona Zariwala
+/? 2i c.921+3_921+6del r.spl p.(Tyr230Glnfs?8) Paternal (confirmed) - pathogenic g.116944168_116944171del g.116623005_116623008del 921+3_6delAAGT - RSPH4A_000003 - PubMed: Daniels 2013, OMIM:var0006 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Daniels 2013 unaffected carrier parents F - Puerto Rico Hispanic - - - - 1 Maimoona Zariwala
+/? 2i c.921+3_921+6del r.spl p.(Tyr230Glnfs?8) Maternal (confirmed) - pathogenic g.116944168_116944171del g.116623005_116623008del 921+3_6delAAGT - RSPH4A_000003 - PubMed: Daniels 2013, OMIM:var0006 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Daniels 2013 unaffected carrier parents F - Puerto Rico Hispanic - - - - 1 Maimoona Zariwala
+/? 2i c.921+3_921+6del r.spl p.(Tyr230Glnfs?8) Paternal (confirmed) - pathogenic g.116944168_116944171del g.116623005_116623008del 921+3_6delAAGT - RSPH4A_000003 - PubMed: Daniels 2013, OMIM:var0006 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Daniels 2013 unaffected carrier parents F - Puerto Rico Hispanic - - - - 1 Maimoona Zariwala
+/? 2i c.921+3_921+6del r.spl p.(Tyr230Glnfs?8) Maternal (confirmed) - pathogenic g.116944168_116944171del g.116623005_116623008del 921+3_6delAAGT - RSPH4A_000003 - PubMed: Daniels 2013, OMIM:var0006 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Daniels 2013 unaffected carrier parents F - Puerto Rico Hispanic - - - - 1 Maimoona Zariwala
+/? 2i c.921+3_921+6del r.spl p.(Tyr230Glnfs?8) Parent #1 - pathogenic g.116944168_116944171del g.116623005_116623008del 921+3_6delAAGT - RSPH4A_000003 - PubMed: Daniels 2013, OMIM:var0006 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Daniels 2013 unaffected carrier parents F - Puerto Rico Hispanic - - - - 1 Maimoona Zariwala
+/? 2i c.921+3_921+6del r.spl p.(Tyr230Glnfs?8) Maternal (confirmed) - pathogenic g.116944168_116944171del g.116623005_116623008del 921+3_6delAAGT - RSPH4A_000003 - PubMed: Daniels 2013, OMIM:var0006 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Daniels 2013 unaffected carrier parents F - Puerto Rico Hispanic - - - - 1 Maimoona Zariwala
+/? 2i c.921+3_921+6del r.spl p.(Tyr230Glnfs?8) Parent #1 - pathogenic g.116944168_116944171del g.116623005_116623008del 921+3_6delAAGT - RSPH4A_000003 - PubMed: Daniels 2013, OMIM:var0006 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Daniels 2013 family, 2 affecteds, unaffected carrier parents F - Puerto Rico Hispanic - - - - 2 Maimoona Zariwala
+/? 2i c.921+3_921+6del r.spl p.(Tyr230Glnfs?8) Parent #2 - pathogenic g.116944168_116944171del g.116623005_116623008del 921+3_6delAAGT - RSPH4A_000003 - PubMed: Daniels 2013, OMIM:var0006 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Daniels 2013 family, 2 affecteds, unaffected carrier parents F - Puerto Rico Hispanic - - - - 2 Maimoona Zariwala
+/? 2i c.921+3_921+6del r.spl p.(Tyr230Glnfs?8) Parent #1 - pathogenic g.116944168_116944171del g.116623005_116623008del 921+3_6delAAGT - RSPH4A_000003 - PubMed: Daniels 2013, OMIM:var0006 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Daniels 2013 family, 2 affecteds, unaffected carrier parents F - Puerto Rico Hispanic - - - - 2 Maimoona Zariwala
+/? 2i c.921+3_921+6del r.spl p.(Tyr230Glnfs?8) Parent #2 - pathogenic g.116944168_116944171del g.116623005_116623008del 921+3_6delAAGT - RSPH4A_000003 - PubMed: Daniels 2013, OMIM:var0006 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Daniels 2013 family, 2 affecteds, unaffected carrier parents F - Puerto Rico Hispanic - - - - 2 Maimoona Zariwala
+/? 2i c.921+3_921+6del r.spl p.(Tyr230Glnfs?8) Maternal (confirmed) - pathogenic g.116944168_116944171del g.116623005_116623008del 921+3_6delAAGT - RSPH4A_000003 - PubMed: Daniels 2013, OMIM:var0006 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Daniels 2013 unaffected carrier parents F - United States Hispanic - - - - 1 Maimoona Zariwala
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