All variants in the TPM1 gene

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_001018005.1 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/. 5 c.539A>G r.(?) p.(Glu180Gly) - pathogenic (dominant) g.63353114A>G g.63060915A>G 595A>G - TPM1_000010 mapped by linkage analysis; not in >200 normal chromosomes PubMed: Thierfelder 1994, OMIM:var0001 - rs28934269 Germline - - MnlI - - Johan den Dunnen
+/. 5 c.539A>G r.(?) p.(Glu180Gly) - pathogenic g.63353114A>G g.63060915A>G - - TPM1_000010 - PubMed: Prabhakar - rs28934269 Germline - - - - - Johan den Dunnen
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