Full data view for gene PIEZO2

Information The variants shown are described using the NM_001378183.1 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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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.8057G>A r.(?) p.(Arg2686His) Maternal (confirmed) - pathogenic (dominant) g.10671726C>T g.10671729C>T - - PIEZO2_000001 - PubMed: Falb 2023, Journal: Falb 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam9PatII1 PubMed: Falb 2023, Journal: Falb 2023 family, affected mother daughter F - Germany - - - - - 2 Johan den Dunnen
+/. - c.8057G>A r.(?) p.(Arg2686His) Unknown - pathogenic (dominant) g.10671726C>T g.10671729C>T - - PIEZO2_000001 - PubMed: Falb 2023, Journal: Falb 2023 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? Fam9mother PubMed: Falb 2023, Journal: Falb 2023 mother F - Germany - - - - - 1 Johan den Dunnen
+?/. - c.8396G>A r.(?) p.(Arg2799His) Maternal (confirmed) - likely pathogenic g.10671726C>T g.10671729C>T - - PIEZO2_000001 - PubMed: McMillin 2014, Journal: McMillin 2014 - - Germline ? - - - - DNA SEQ - - DA3 - PubMed: McMillin 2014, Journal: McMillin 2014 2-generation family, affected mother, daugther and 2 sons - no - - - - - - 4 Marianne Vos (LOVD-team)
+?/. - c.8396G>A r.(?) p.(Arg2799His) Unknown - likely pathogenic g.10671726C>T g.10671729C>T - - PIEZO2_000001 - PubMed: McMillin 2014, Journal: McMillin 2014 - - De novo ? - - - - DNA SEQ - - DA3 - PubMed: McMillin 2014, Journal: McMillin 2014 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Marianne Vos (LOVD-team)
+?/. - c.8396G>A r.(?) p.(Arg2799His) Unknown - likely pathogenic g.10671726C>T g.10671729C>T - - PIEZO2_000001 - PubMed: McMillin 2014, Journal: McMillin 2014 - - De novo - - - - - DNA SEQ - - DA3 - PubMed: McMillin 2014, Journal: McMillin 2014 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.8396G>A r.(?) p.(Arg2799His) Unknown - likely pathogenic g.10671726C>T g.10671729C>T - - PIEZO2_000001 - PubMed: McMillin 2014, Journal: McMillin 2014 - - De novo - - - - - DNA SEQ - - DA3 - PubMed: McMillin 2014, Journal: McMillin 2014 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.8396G>A r.(?) p.(Arg2799His) Unknown - likely pathogenic g.10671726C>T g.10671729C>T - - PIEZO2_000001 - PubMed: McMillin 2014, Journal: McMillin 2014 - - De novo - - - - - DNA SEQ - - DA3 - PubMed: McMillin 2014, Journal: McMillin 2014 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.8396G>A r.(?) p.(Arg2799His) Parent #1 - likely pathogenic g.10671726C>T g.10671729C>T - - PIEZO2_000001 - PubMed: McMillin 2014, Journal: McMillin 2014 - - Germline yes - - - - DNA SEQ - - DA3 - PubMed: McMillin 2014, Journal: McMillin 2014 2-generation family, affected mother/son - - - - - - - - 2 Johan den Dunnen
+?/. - c.8396G>A r.(?) p.(Arg2799His) Unknown - likely pathogenic g.10671726C>T g.10671729C>T - - PIEZO2_000001 - PubMed: McMillin 2014, Journal: McMillin 2014 - - Unknown - - - - - DNA SEQ - - DA3 - PubMed: McMillin 2014, Journal: McMillin 2014 2-generation family, 1 affected F - - - - - - - 1 Johan den Dunnen
+?/. - c.8396G>A r.(?) p.(Arg2799His) Unknown - likely pathogenic g.10671726C>T g.10671729C>T - - PIEZO2_000001 - PubMed: McMillin 2014, Journal: McMillin 2014 - - De novo - - - - - DNA SEQ - - DA3 - PubMed: McMillin 2014, Journal: McMillin 2014 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.8396G>A r.(?) p.(Arg2799His) Parent #1 - likely pathogenic g.10671726C>T g.10671729C>T - - PIEZO2_000001 - PubMed: McMillin 2014, Journal: McMillin 2014 - - Germline yes - - - - DNA SEQ - - DA3 - PubMed: McMillin 2014, Journal: McMillin 2014 2-generation family, affected mother/son - - - - - - - - 2 Johan den Dunnen
+?/. - c.8396G>A r.(?) p.(Arg2799His) Unknown - likely pathogenic g.10671726C>T g.10671729C>T - - PIEZO2_000001 - PubMed: McMillin 2014, Journal: McMillin 2014 - - Unknown - - - - - DNA SEQ - - DA5 - PubMed: McMillin 2014, Journal: McMillin 2014 2-generation family, 1 affected M - - - - - - - 1 Johan den Dunnen
+?/. - c.8396G>A r.(?) p.(Arg2799His) Unknown - likely pathogenic g.10671726C>T g.10671729C>T - - PIEZO2_000001 - PubMed: McMillin 2014, Journal: McMillin 2014 - - De novo - - - - - DNA SEQ - - DA5 - PubMed: McMillin 2014, Journal: McMillin 2014 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.8396G>A r.(?) p.(Arg2799His) Unknown ACMG pathogenic g.10671726C>T g.10671729C>T - - PIEZO2_000001 no variant 2nd chromosome PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - Germline - - - - - DNA SEQ - - DA D15-1298 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - 1 Gianina Ravenscroft
+/. - c.8396G>A r.(?) p.(Arg2799His) Unknown ACMG pathogenic g.10671726C>T g.10671729C>T - - PIEZO2_000001 no variant 2nd chromosome PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - Germline - - - - - DNA SEQ - - DA D16-0479 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - 1 Gianina Ravenscroft
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