2024 Tnnt2 c.422g a p.arg141gln

Tnnt2 c.422g a p.arg141gln

Author: tnhh

August undefined, 2024

WebbThe TNNT2 gene provides instructions for making a protein called cardiac troponin T, which is found solely in the heart (cardiac) muscle. Cardiac troponin T is one of three … WebbDistinguish antisense genes from sense genes Show significances as they were submitted (without aggregation into standard terms)

VCV002386746.1 - ClinVar - NCBI

WebbSubmissions for variant NM_001276345.2 (TNNT2):c.422G>A (p.Arg141Gln) - ClinVar Miner Submissions for variant NM_001276345. 2 (TNNT2): c. 422G>A (p. Arg141Gln) … WebbThe benign variants MYBPC3 p.Val158Met and TNNT2 p.Lys263Arg were associated with severe LVH (p<0.05), and the MYH7 p.Val320Met (pathogenic) was associated with … the knowledgehut team

NM_000284.4(PDHA1):c.422G>A (p.Arg141Gln) AND Pyruvate …

Webb10 sep. 2024 · NM_001276345.2(TNNT2):c.422G>A (p.Arg141Gln) Gene: TNNT2:troponin T2, cardiac type [Gene - OMIM - HGNC] Variant type: single nucleotide variant … Webb28 okt. 2016 · Europe PMC is an archive of life sciences journal literature. WebbList of variants in gene reported as pathogenic. List of variants in gene. reported as pathogenic. Show significances as they were submitted (without aggregation into … the knowledge institute

Cardiomyopathy, Familial Hypertrophic, 2 - MalaCards

(PDF) Actionable genomic variants in 6,045 participants

Webb1 aug. 2024 · ENST00000344887 c.422G>A p.Arg141Gln 8.27E ... TNNT2 (2 variants and 2 GPPs), DSC2 (1 variant and 2 GPPs), LMNA (1 variant. and 1 GPP), KCNH2 (1 variant and … WebbNM_001276345.2(TNNT2):c.452G>A (p.Arg151Gln) AND multiple conditions Clinical significance: Pathogenic (Last evaluated: Oct 13, 2024) Review status: 1 star out of … the knowledge mona koonerWebb10 547 NA NA 7 years F c.422G>A p.Arg141Gln CPS/β-sheet 11 429 53.2 15.5 14 years F c.482A>G p.Asn161Ser 0 CPS/β-sheet 12 860 NA 5.7 7 days M c.571del p.Leu191SerfsX15 the knowledge hut

"WebbA hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include … " - Tnnt2 c.422g a p.arg141gln

Tnnt2 c.422g a p.arg141gln

WebbAn important gene associated with Cardiomyopathy, Familial Restrictive, 3 is TNNT2 (Troponin T2, Cardiac Type), and among its related pathways/superpathways are … Webbsingle nucleotide variant: NM_001276345.2(TNNT2):c.349G>T (p.Glu117Ter) TNNT2: Pathogenic: 1: 201334381: 201334381: C: A: criteria provided, single submitter-indel

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Webbsingle nucleotide variant: NM_001276345.2(TNNT2):c.422G>A (p.Arg141Gln) TNNT2: Pathogenic: 1: 201333493: 201333493: C: T: criteria provided, multiple submitters, no ... Webb21 mars 2024 · GeneCards Summary for TNNT2 Gene TNNT2 (Troponin T2, Cardiac Type) is a Protein Coding gene. Diseases associated with TNNT2 include Cardiomyopathy, …

WebbNM_014257.5(CLEC4M):c.422G>A (p.Arg141Gln) AND Inborn genetic diseases Clinical significance: Likely benign (Last evaluated: Jun 11, 2024) Review status: 1 star out of maximum of 4 stars WebbUniProtKB/Swiss-Prot: 73 A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. …

Webb16 aug. 2024 · reviewed Aug 16 2024 criteria provided multiple submitters no conflicts from BIO ENG MISC at University of California, Berkeley WebbNM_014257.5(CLEC4M):c.422G>A (p.Arg141Gln) AND Inborn genetic diseases Clinical significance: Likely benign (Last evaluated: Jun 11, 2024) Review status: 1 star out of …

Webbsingle nucleotide variant: NM_001276345.2(TNNT2):c.422G>A (p.Arg141Gln) TNNT2: Pathogenic: 1: 201333493: 201333493: C: T: criteria provided, multiple submitters, no ...

WebbCardiac troponin T ( TNNT2) links the troponin complex to α-tropomyosin, spans 17 kb of DNA on chromosome 1, and encodes a 288-amino-acid peptide (36–39 kDa). Several … the knowledge key tuition centreWebbTNNT2 Associated Variants TNNT2 p.Arg141Gln (p.R141Q) ( ENST00000236918.11, ENST00000360372.8 , ENST00000367315.6 ... NM_001276345.2(TNNT2):c.422G>A … the knowledge hub universitiesWebbNM_001276345. 2 (TNNT2): c. 692T>C (p. Ile231Thr) rs45520032 0.00015 NM_001276345. 2 (TNNT2): c. 887G>A (p. Arg296His) rs141121678 0.00013 … the knowledge network for biocomplexityWebbsingle nucleotide variant: NM_001276345.2(TNNT2):c.547C>T (p.Arg183Trp) TNNT2: Pathogenic: 1: 201332477: 201332477: G: A: criteria provided, multiple submitters, no ... the knowledge hut cspoWebb1 jan. 2024 · Search life-sciences literature (41,092,037 articles, preprints and more) Search. Advanced search the knowledge knowle westWebb2 feb. 2015 · NM_001276345.2(TNNT2):c.422G>A (p.Arg141Gln) Gene: TNNT2:troponin T2, cardiac type [Gene - OMIM - HGNC] Variant type: single nucleotide variant … the knowledge mapWebbMutations in the TNNT2 gene, encoding the thin-filament contractile protein cardiac troponin T, are responsible for 15% of all cases of familial hypertrophic cardiomyopathy. … the knowledge machine by michael strevens