View genomic variant #0000001785

Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.3319550C>T
Published as -
GERP 4.320
Segregation -
DB-ID PRDM16_000001
MSCV MSCV_0001785
dbSNP ID rs397514744
Frequency -
Sources ; clinvar;
Reference 23768516
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts

1 entry on 1 page. Showing entry 1.
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Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
PRDM16 00003259 NM_022114.3 0000001785 +/+ c.872C>T p.(Pro291Leu) missense_variant - 6/17 possibly_damaging(0.851) r.(?) deleterious(0.02)
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ClinVar @ MSeqDR

RCVaccession RCV000054522; RCV001239707; RCV001375649;
Chromosome 1:3319550..3319550
Allele frequencies from ExAC 0.00003
ClinVar Allele ID 75288
Disease database name and identifier EFO:EFO 0000407, Human Phenotype Ontology:HP:0001644, Human Phenotype Ontology:HP:0001725, Human Phenotype Ontology:HP:0005159, Human Phenotype Ontology:HP:0200130, MONDO:MONDO:0005021, MeSH:D002311, MedGen:C0007193, Orphanet:217604|MONDO:MONDO:0014152, MedGen:C3809288, OMIM:615373, Orphanet:154, Orphanet:54260|MONDO:MONDO:0800367, MedGen:C3809289
ClinVar preferred disease name Primary dilated cardiomyopathy|Left ventricular noncompaction 8|Cardiomyopathy, dilated, 1LL
HGVS variant names NC 000001.10:g.3319550C>T
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Uncertain significance
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported ClinGen:CA144646|OMIM:605557.0005|UniProtKB:Q9HAZ2#VAR 070213
Gene symbol:Gene id. PRDM16:63976
Molecular consequence SO:0001583|missense variant
Allele origin
dbSNP ID 397514744
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

None