Genomic variant #0000001688

Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.201331116C>A
Published as -
GERP 4.440
Segregation -
DB-ID TNNT2_000015
dbSNP ID rs121964860
Frequency -
Sources ; clinvar;
Reference 15542288;15923195;20031601
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
TNNT2 NM_000364.2 +/+ c.635G>T p.(Arg212Leu) missense_variant - 13/16 - r.(?) -
TNNT2 NM_000364.3 +/+ c.635G>T p.(Arg212Leu) missense_variant - 13/16 - r.(?) -


ClinVar @ MSeqDR

27455
MedGen:C1832243,OMIM:601494
Left ventricular noncompaction 6
HGVS variant names NC 000001.10:g.201331116C>A
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:191045.0009
Gene symbol:Gene id. TNNT2:7139
SO:0001583|missense variant
1
dbSNP ID 121964860
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

228281
MedGen:CN169374
not specified
HGVS variant names NC 000001.10:g.201331116C>G
criteria provided, single submitter
Clinical Significance
single nucleotide variant
SO:0001483
Gene symbol:Gene id. TNNT2:7139
SO:0001583|missense variant
1
dbSNP ID 121964860
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

172498
MedGen:C1861864,OMIM:115195|MedGen:CN169374
Familial hypertrophic cardiomyopathy 2|not specified
HGVS variant names NC 000001.10:g.201331116C>T
criteria provided, conflicting interpretations
Clinical Significance
Likely pathogenic(1),Uncertain significance(1)
single nucleotide variant
SO:0001483
Gene symbol:Gene id. TNNT2:7139
SO:0001583|missense variant
1
dbSNP ID 121964860
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

variation_namechromseq_region_startseq_region_endallele_stringminor_alleleminor_allele_freqvariation_setPhenotype_description
rs1219648601201331116201331116C/AOMIM phenotype variantsCARDIOMYOPATHY, DILATED, 1D
rs1219648601201331116201331116C/AOMIM phenotype variantsLeft ventricular noncompaction 6
CM0435951201331116201331116HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available