Genomic variant #0000001785

Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.3319550C>T
Published as -
GERP 4.320
Segregation -
DB-ID PRDM16_000001
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


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

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


ClinVar @ MSeqDR

0.00003
75288
MedGen:CN178850
Dilated cardiomyopathy 1LL
HGVS variant names NC 000001.10:g.3319550C>T
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:605557.0005|UniProtKB (protein):Q9HAZ2#VAR 070213
Gene symbol:Gene id. PRDM16:63976
SO:0001583|missense variant
1
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