Full data view for gene TTR

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
Information The variants shown are described using the NM_000371.3 transcript reference sequence.

47 entries on 1 page. Showing entries 1 - 47.
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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     
-/. 3i c.336+1242C>A r.(?) p.(?) Parent #1 - benign g.29176460C>A g.31596497C>A - - TTR_000166 - Polimanti, submitted - rs3764476 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 1TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
-/. 3i c.336+1242C>A r.(?) p.(?) Parent #2 - benign g.29176460C>A g.31596497C>A - - TTR_000166 - Polimanti, submitted - rs3764476 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 3TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
-/. 3i c.336+1242C>A r.(?) p.(?) Parent #2 - benign g.29176460C>A g.31596497C>A - - TTR_000166 - Polimanti, submitted - rs3764476 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 4TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
-/. 3i c.336+1242C>A r.(?) p.(?) Both (homozygous) - benign g.29176460C>A g.31596497C>A - - TTR_000166 - Polimanti, submitted - rs3764476 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 5TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
-/. 3i c.336+1242C>A r.(?) p.(?) Parent #2 - benign g.29176460C>A g.31596497C>A - - TTR_000166 - Polimanti, submitted - rs3764476 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 6TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
-/. 3i c.336+1242C>A r.(?) p.(?) Parent #2 - benign g.29176460C>A g.31596497C>A - - TTR_000166 - Polimanti, submitted - rs3764476 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 7TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
-/. 3i c.336+1242C>A r.(?) p.(?) Parent #1 - benign g.29176460C>A g.31596497C>A - - TTR_000166 - Polimanti, submitted - rs3764476 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 10TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
-/. 3i c.336+1242C>A r.(?) p.(?) Both (homozygous) - benign g.29176460C>A g.31596497C>A - - TTR_000166 - Polimanti, submitted - rs3764476 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 12TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
-/. 3i c.336+1242C>A r.(?) p.(?) Parent #2 - benign g.29176460C>A g.31596497C>A - - TTR_000166 - Polimanti, submitted - rs3764476 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 13TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
-/. 3i c.336+1242C>A r.(?) p.(?) Parent #2 - benign g.29176460C>A g.31596497C>A - - TTR_000166 - Polimanti, submitted - rs3764476 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 15TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
-/. 3i c.336+1242C>A r.(?) p.(?) Parent #2 - benign g.29176460C>A g.31596497C>A - - TTR_000166 - Polimanti, submitted - rs3764476 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 16TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
-/. 3i c.336+1242C>A r.(?) p.(?) Parent #2 - benign g.29176460C>A g.31596497C>A - - TTR_000166 - Polimanti, submitted - rs3764476 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 19TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
-/. 3i c.336+1242C>A r.(?) p.(?) Both (homozygous) - benign g.29176460C>A g.31596497C>A - - TTR_000166 - Polimanti, submitted - rs3764476 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 21TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
-/. 3i c.336+1242C>A r.(?) p.(?) Parent #2 - benign g.29176460C>A g.31596497C>A - - TTR_000166 - Polimanti, submitted - rs3764476 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 22TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
-/. 3i c.336+1242C>A r.(?) p.(?) Parent #2 - benign g.29176460C>A g.31596497C>A - - TTR_000166 - Polimanti, submitted - rs3764476 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 24TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
-/. 3i c.336+1242C>A r.(?) p.(?) Parent #2 - benign g.29176460C>A g.31596497C>A - - TTR_000166 - Polimanti, submitted - rs3764476 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 28TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
-/. 3i c.336+1242C>A r.(?) p.(?) Both (homozygous) - benign g.29176460C>A g.31596497C>A - - TTR_000166 - Polimanti, submitted - rs3764476 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 30TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
-/. 3i c.336+1242C>A r.(?) p.(?) Both (homozygous) - benign g.29176460C>A g.31596497C>A - - TTR_000166 - Polimanti, submitted - rs3764476 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 31TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
-/. 3i c.336+1242C>A r.(?) p.(?) Parent #2 - benign g.29176460C>A g.31596497C>A - - TTR_000166 - Polimanti, submitted - rs3764476 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 38TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
-/. 3i c.336+1242C>A r.(?) p.(?) Both (homozygous) - benign g.29176460C>A g.31596497C>A - - TTR_000166 - Polimanti, submitted - rs3764476 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 40TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
-/. 3i c.336+1242C>A r.(?) p.(?) Parent #1 - benign g.29176460C>A g.31596497C>A - - TTR_000166 - Polimanti, submitted - rs3764476 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 41TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
-/. 3i c.336+1242C>A r.(?) p.(?) Parent #2 - benign g.29176460C>A g.31596497C>A - - TTR_000166 - Polimanti, submitted - rs3764476 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 42TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
-/. 3i c.336+1242C>A r.(?) p.(?) Both (homozygous) - benign g.29176460C>A g.31596497C>A - - TTR_000166 - Polimanti, submitted - rs3764476 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 43TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
-/. 3i c.336+1242C>A r.(?) p.(?) Parent #2 - benign g.29176460C>A g.31596497C>A - - TTR_000166 - Polimanti, submitted - rs3764476 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 46TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
-/. 3i c.336+1242C>A r.(?) p.(?) Parent #2 - benign g.29176460C>A g.31596497C>A - - TTR_000166 - Polimanti, submitted - rs3764476 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 47TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
-/. 3i c.336+1242C>A r.(?) p.(?) Both (homozygous) - benign g.29176460C>A g.31596497C>A - - TTR_000166 - Polimanti, submitted - rs3764476 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 48TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
-/. 3i c.336+1242C>A r.(?) p.(?) Both (homozygous) - benign g.29176460C>A g.31596497C>A - - TTR_000166 - Polimanti, submitted - rs3764476 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 49TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
-/. 3i c.336+1242C>A r.(?) p.(?) Both (homozygous) - benign g.29176460C>A g.31596497C>A - - TTR_000166 - Polimanti, submitted - rs3764476 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 50TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
-/. 3i c.336+1242C>A r.(?) p.(?) Parent #2 - benign g.29176460C>A g.31596497C>A - - TTR_000166 - Polimanti, submitted - rs3764476 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 53TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
-/. 3i c.336+1242C>A r.(?) p.(?) Both (homozygous) - benign g.29176460C>A g.31596497C>A - - TTR_000166 - Polimanti, submitted - rs3764476 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 55TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
-/. 3i c.336+1242C>A r.(?) p.(?) Parent #2 - benign g.29176460C>A g.31596497C>A - - TTR_000166 - Polimanti, submitted - rs3764476 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 56TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
-/. 3i c.336+1242C>A r.(?) p.(?) Parent #2 - benign g.29176460C>A g.31596497C>A - - TTR_000166 - Polimanti, submitted - rs3764476 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 57TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
-/. 3i c.336+1242C>A r.(?) p.(?) Both (homozygous) - benign g.29176460C>A g.31596497C>A - - TTR_000166 - Polimanti, submitted - rs3764476 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 59TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
-/. 3i c.336+1242C>A r.(?) p.(?) Parent #2 - benign g.29176460C>A g.31596497C>A - - TTR_000166 - Polimanti, submitted - rs3764476 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 60TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
-/. 3i c.336+1242C>A r.(?) p.(?) Parent #2 - benign g.29176460C>A g.31596497C>A - - TTR_000166 - Polimanti, submitted - rs3764476 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 61TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
-/. 3i c.336+1242C>A r.(?) p.(?) Both (homozygous) - benign g.29176460C>A g.31596497C>A - - TTR_000166 - Polimanti, submitted - rs3764476 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 62TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
-/. 3i c.336+1242C>A r.(?) p.(?) Parent #2 - benign g.29176460C>A g.31596497C>A - - TTR_000166 - Polimanti, submitted - rs3764476 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 63TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
-/. 3i c.336+1242C>A r.(?) p.(?) Both (homozygous) - benign g.29176460C>A g.31596497C>A - - TTR_000166 - Polimanti, submitted - rs3764476 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 64TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
-/. 3i c.336+1242C>A r.(?) p.(?) Both (homozygous) - benign g.29176460C>A g.31596497C>A - - TTR_000166 - Polimanti, submitted - rs3764476 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 65TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
-/. 3i c.336+1242C>A r.(?) p.(?) Parent #2 - benign g.29176460C>A g.31596497C>A - - TTR_000166 - Polimanti, submitted - rs3764476 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 66TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
-/. 3i c.336+1242C>A r.(?) p.(?) Both (homozygous) - benign g.29176460C>A g.31596497C>A - - TTR_000166 - Polimanti, submitted - rs3764476 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 67TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
-/. 3i c.336+1242C>A r.(?) p.(?) Parent #2 - benign g.29176460C>A g.31596497C>A - - TTR_000166 - Polimanti, submitted - rs3764476 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 68TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
-/. 3i c.336+1242C>A r.(?) p.(?) Parent #2 - benign g.29176460C>A g.31596497C>A - - TTR_000166 - Polimanti, submitted - rs3764476 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 70TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
-/. 3i c.336+1242C>A r.(?) p.(?) Parent #2 - benign g.29176460C>A g.31596497C>A - - TTR_000166 - Polimanti, submitted - rs3764476 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 72TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
-/. 3i c.336+1242C>A r.(?) p.(?) Parent #2 - benign g.29176460C>A g.31596497C>A - - TTR_000166 - Polimanti, submitted - rs3764476 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 73TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
-/. 3i c.336+1242C>A r.(?) p.(?) Parent #2 - benign g.29176460C>A g.31596497C>A - - TTR_000166 - Polimanti, submitted - rs3764476 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 74TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
-/. 3i c.336+1242C>A r.(?) p.(?) Both (homozygous) - benign g.29176460C>A g.31596497C>A - - TTR_000166 - Polimanti, submitted - rs3764476 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 75TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
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