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 -
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;
Chromosome 1:3319550..3319550
Allele frequencies from ExAC 0.00003
ClinVar Allele ID 75288
Disease database name and identifier MedGen:CN178850
ClinVar preferred disease name Dilated cardiomyopathy 1LL
HGVS variant names NC 000001.10:g.3319550C>T
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:605557.0005|UniProtKB (protein):Q9HAZ2#VAR 070213
Gene symbol:Gene id. PRDM16:63976
Molecular consequence SO:0001583|missense variant
Allele origin germline
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