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.

38 entries on 1 page. Showing entries 1 - 38.
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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     
+/. 2 c.148G>A r.(?) p.(Val50Met) Parent #1 - pathogenic g.29172937G>A g.31592974G>A - - TTR_000011 - PubMed: Saraiva 1984 - rs28933979 Germline - - - - - DNA SEQ - - amyloidosis, hereditary, transthyretin-related 06736244-Pat PubMed: Saraiva 1984 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.148G>A r.(?) p.(Val50Met) Parent #2 - pathogenic g.29172937G>A g.31592974G>A - - TTR_000011 - Polimanti, submitted - rs28933979 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 1TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
+/. 2 c.148G>A r.(?) p.(Val50Met) Parent #1 - pathogenic g.29172937G>A g.31592974G>A - - TTR_000011 - Polimanti, submitted - rs28933979 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 3TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
+/. 2 c.148G>A r.(?) p.(Val50Met) Parent #1 - pathogenic g.29172937G>A g.31592974G>A - - TTR_000011 - Polimanti, submitted - rs28933979 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 4TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
+/. 2 c.148G>A r.(?) p.(Val50Met) Parent #1 - pathogenic g.29172937G>A g.31592974G>A - - TTR_000011 - Polimanti, submitted - rs28933979 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 5TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
+/. 2 c.148G>A r.(?) p.(Val50Met) Parent #2 - pathogenic g.29172937G>A g.31592974G>A - - TTR_000011 - Polimanti, submitted - rs28933979 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 7TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
+/. 2 c.148G>A r.(?) p.(Val50Met) Parent #1 - pathogenic g.29172937G>A g.31592974G>A - - TTR_000011 - Polimanti, submitted - rs28933979 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 13TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
+/. 2 c.148G>A r.(?) p.(Val50Met) Parent #2 - pathogenic g.29172937G>A g.31592974G>A - - TTR_000011 - Polimanti, submitted - rs28933979 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 14TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
+/. 2 c.148G>A r.(?) p.(Val50Met) Parent #1 - pathogenic g.29172937G>A g.31592974G>A - - TTR_000011 - Polimanti, submitted - rs28933979 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 15TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
+/. 2 c.148G>A r.(?) p.(Val50Met) Parent #1 - pathogenic g.29172937G>A g.31592974G>A - - TTR_000011 - Polimanti, submitted - rs28933979 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 16TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
+/. 2 c.148G>A r.(?) p.(Val50Met) Parent #1 - pathogenic g.29172937G>A g.31592974G>A - - TTR_000011 - Polimanti, submitted - rs28933979 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 19TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
+/. 2 c.148G>A r.(?) p.(Val50Met) Parent #2 - pathogenic g.29172937G>A g.31592974G>A - - TTR_000011 - Polimanti, submitted - rs28933979 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 20TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
+/. 2 c.148G>A r.(?) p.(Val50Met) Parent #1 - pathogenic g.29172937G>A g.31592974G>A - - TTR_000011 - Polimanti, submitted - rs28933979 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 21TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
+/. 2 c.148G>A r.(?) p.(Val50Met) Parent #2 - pathogenic g.29172937G>A g.31592974G>A - - TTR_000011 - Polimanti, submitted - rs28933979 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 22TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
+/. 2 c.148G>A r.(?) p.(Val50Met) Parent #2 - pathogenic g.29172937G>A g.31592974G>A - - TTR_000011 - Polimanti, submitted - rs28933979 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 23TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
+/. 2 c.148G>A r.(?) p.(Val50Met) Parent #1 - pathogenic g.29172937G>A g.31592974G>A - - TTR_000011 - Polimanti, submitted - rs28933979 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 24TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
+/. 2 c.148G>A r.(?) p.(Val50Met) Parent #2 - pathogenic g.29172937G>A g.31592974G>A - - TTR_000011 - Polimanti, submitted - rs28933979 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 25TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
+/. 2 c.148G>A r.(?) p.(Val50Met) Parent #1 - pathogenic g.29172937G>A g.31592974G>A - - TTR_000011 - Polimanti, submitted - rs28933979 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 28TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
+/. 2 c.148G>A r.(?) p.(Val50Met) Parent #1 - pathogenic g.29172937G>A g.31592974G>A - - TTR_000011 - Polimanti, submitted - rs28933979 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 30TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
+/. 2 c.148G>A r.(?) p.(Val50Met) Parent #1 - pathogenic g.29172937G>A g.31592974G>A - - TTR_000011 - Polimanti, submitted - rs28933979 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 31TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
+/. 2 c.148G>A r.(?) p.(Val50Met) Parent #1 - pathogenic g.29172937G>A g.31592974G>A - - TTR_000011 - Polimanti, submitted - rs28933979 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 38TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
+/. 2 c.148G>A r.(?) p.(Val50Met) Parent #2 - pathogenic g.29172937G>A g.31592974G>A - - TTR_000011 - Polimanti, submitted - rs28933979 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 41TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
+/. 2 c.148G>A r.(?) p.(Val50Met) Parent #1 - pathogenic g.29172937G>A g.31592974G>A - - TTR_000011 - Polimanti, submitted - rs28933979 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 46TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
+/. 2 c.148G>A r.(?) p.(Val50Met) Parent #2 - pathogenic g.29172937G>A g.31592974G>A - - TTR_000011 - Polimanti, submitted - rs28933979 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 47TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
+/. 2 c.148G>A r.(?) p.(Val50Met) Parent #1 - pathogenic g.29172937G>A g.31592974G>A - - TTR_000011 - Polimanti, submitted - rs28933979 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 59TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
+/. 2 c.148G>A r.(?) p.(Val50Met) Parent #1 - pathogenic g.29172937G>A g.31592974G>A - - TTR_000011 - Polimanti, submitted - rs28933979 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 60TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
+/. 2 c.148G>A r.(?) p.(Val50Met) Parent #1 - pathogenic g.29172937G>A g.31592974G>A - - TTR_000011 - Polimanti, submitted - rs28933979 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 61TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
+/. 2 c.148G>A r.(?) p.(Val50Met) Parent #1 - pathogenic g.29172937G>A g.31592974G>A - - TTR_000011 - Polimanti, submitted - rs28933979 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 68TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
+/. 2 c.148G>A r.(?) p.(Val50Met) Parent #1 - pathogenic g.29172937G>A g.31592974G>A - - TTR_000011 - Polimanti, submitted - rs28933979 Germline - - - - - DNA SEQ-NG - - amyloidosis, hereditary, transthyretin-related 71TTR Polimanti, submitted - - - United States - - - - - 1 Renato Polimanti
+/. - c.148G>A r.(?) p.(Val50Met) Unknown - pathogenic g.29172937G>A g.31592974G>A TTR(NM_000371.3):c.148G>A (p.V50M, p.(Val50Met)), TTR(NM_000371.4):c.148G>A (p.V50M) - TTR_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.148G>A r.(?) p.(Val50Met) Unknown - pathogenic g.29172937G>A g.31592974G>A TTR(NM_000371.3):c.148G>A (p.V50M, p.(Val50Met)), TTR(NM_000371.4):c.148G>A (p.V50M) - TTR_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.148G>A r.(?) p.(Val50Met) Parent #1 - pathogenic g.29172937G>A g.31592974G>A - - TTR_000011 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - - - DNA SEQ, SEQ-NG - targeted multigene panel amyloidosis, hereditary, transthyretin-related 28902413-Pat59 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - - - - 1 Johan den Dunnen
+/. - c.148G>A r.(?) p.(Val50Met) Unknown - pathogenic g.29172937G>A g.31592974G>A TTR(NM_000371.3):c.148G>A (p.V50M, p.(Val50Met)), TTR(NM_000371.4):c.148G>A (p.V50M) - TTR_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.148G>A r.(?) p.(Val50Met) Unknown - pathogenic g.29172937G>A g.31592974G>A TTR(NM_000371.3):c.148G>A (p.V50M, p.(Val50Met)), TTR(NM_000371.4):c.148G>A (p.V50M) - TTR_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.148G>A r.(?) p.(Val50Met) Unknown - pathogenic g.29172937G>A g.31592974G>A TTR(NM_000371.3):c.148G>A (p.V50M, p.(Val50Met)), TTR(NM_000371.4):c.148G>A (p.V50M) - TTR_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.148G>A r.(?) p.(Val50Met) Unknown - likely pathogenic g.29172937G>A g.31592974G>A - - TTR_000011 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 1 Johan den Dunnen
+/. - c.148G>A r.(?) p.(Val50Met) Unknown - pathogenic g.29172937G>A - - - TTR_000011 - - - rs28933979 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.148G>A r.(?) p.(Val50Met) Unknown - pathogenic g.29172937G>A - TTR(NM_000371.3):c.148G>A (p.V50M, p.(Val50Met)), TTR(NM_000371.4):c.148G>A (p.V50M) - TTR_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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