Full data view for gene TNNT3

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_006757.3 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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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.636T>C r.(?) p.(Ile212=) Unknown - benign g.1956104T>C g.1934874T>C TNNT3(NM_001297646.2):c.612T>C (p.I204=) - TNNT3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 14 c.636T>C r.(?) p.(Ile212=) Parent #1 - VUS g.1956104T>C g.1934874T>C - - TNNT3_000007 - - - rs16927166 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.636T>C r.(=) p.(=) Parent #1 - likely benign g.1956104T>C g.1934874T>C - - TNNT3_000007 247 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs16927166 Germline - 247/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 247 Mohammed Faruq
-?/. - c.636T>C r.(=) p.(=) Both (homozygous) - likely benign g.1956104T>C g.1934874T>C - - TNNT3_000007 7 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs16927166 Germline - 7/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 7 Mohammed Faruq
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