Full data view for gene NKX2-5

Information The variants shown are described using the NM_004387.3 transcript reference sequence.

11 entries on 1 page. Showing entries 1 - 11.
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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.355G>T r.(?) p.(Ala119Ser) Unknown - likely benign g.172660192C>A g.173233189C>A NKX2-5(NM_004387.3):c.355G>T (p.A119S), NKX2-5(NM_004387.4):c.355G>T (p.A119S) - NKX2-5_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.355G>T r.(?) p.Ala119Ser Unknown - likely pathogenic g.172660192C>A g.173233189C>A - - NKX2-5_000055 rs137852684 PubMed: Costa 2013 - - Unknown - 0.00082 - - - DNA SEQ-NG - - AOVD1, ASD, CHNG5, coarctation, HLHS1, VSD - PubMed: Costa 2013 - - - - - - - - - 1 Liliana Dain
+?/. 2 c.355G>T r.(?) p.Ala119Ser Unknown - likely pathogenic g.172660192C>A g.173233189C>A - - NKX2-5_000055 rs137852684 PubMed: Dentice 2006 - - Unknown - 0.00082 - - - DNA SEQ-NG - - AOVD1, ASD, CHNG5, coarctation, HLHS1, VSD - PubMed: Dentice 2006 - - - - - - - - - 1 Liliana Dain
+?/. 2 c.355G>T r.(?) p.Ala119Ser Unknown - likely pathogenic g.172660192C>A g.173233189C>A - - NKX2-5_000055 rs137852684 PubMed: Reamon-Buettner 2013 - - Unknown - 0.00082 - - - DNA SEQ-NG - - AOVD1, ASD, CHNG5, coarctation, HLHS1, VSD - PubMed: Reamon-Buettner 2013 - - - - - - - - - 1 Liliana Dain
+?/. 2 c.355G>T r.(?) p.Ala119Ser Unknown - likely pathogenic g.172660192C>A g.173233189C>A - - NKX2-5_000055 rs137852684 PubMed: van Engelen 2012 - - Unknown - 0.00082 - - - DNA SEQ-NG - - AOVD1, ASD, CHNG5, coarctation, HLHS1, VSD - PubMed: van Engelen 2012 - - - - - - - - - 1 Liliana Dain
-?/. - c.355G>T r.(?) p.(Ala119Ser) Unknown - likely benign g.172660192C>A g.173233189C>A NKX2-5(NM_004387.3):c.355G>T (p.A119S), NKX2-5(NM_004387.4):c.355G>T (p.A119S) - NKX2-5_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.355G>T r.(?) p.(Ala119Ser) Parent #1 - likely benign g.172660192C>A g.173233189C>A - - NKX2-5_000055 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs137852684 Germline - 4/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
-?/. - c.355G>T r.(?) p.(Ala119Ser) Unknown - likely benign g.172660192C>A - NKX2-5(NM_004387.3):c.355G>T (p.A119S), NKX2-5(NM_004387.4):c.355G>T (p.A119S) - NKX2-5_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2 c.355G>T r.(?) p.(Ala119Ser) Paternal (confirmed) ACMG benign g.172660192C>A g.173233189C>A - - NKX2-5_000055 - PubMed: Alcántara-Ortigoza 2021 ClinVar-RCV000230156.6 rs137852684 Germline no 1/128 patients; 0/146 controls AciI, HpyAV - - DNA SEQ blood peripheral leukocytes Normal complete Sanger sequencing of NKX2-1, TSHR, FOXE1. No CNV´s detected by MLPA in TSHR, FOXE1, PAX8 and NKX2-1. CHNG2 HC-321 PubMed: Alcántara-Ortigoza 2021 - M no Mexico Mexican - 1 yes Thyroid hormone supplementation 1 Miguel Angel Alcántara-Ortigoza
?/. - c.355G>T r.(?) p.(Ala119Ser) Unknown - VUS g.172660192C>A g.173233189C>A - - NKX2-5_000055 - PubMed: Miszalski-Jamka 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - LVNC Pat126 PubMed: Miszalski-Jamka 2017 case not solved - - - - - - - - 1 Johan den Dunnen
-/. - c.355G>T r.(?) p.(Ala119Ser) Unknown - benign g.172660192C>A - NKX2-5(NM_004387.3):c.355G>T (p.A119S), NKX2-5(NM_004387.4):c.355G>T (p.A119S) - NKX2-5_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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