View genomic variant #0000020283

Chromosome 3
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) g.10328453T>A
Published as -
GERP -
Segregation -
DB-ID GHRL_000002 See all 2 reported entries
MSCV MSCV_0000929
dbSNP ID -
Frequency -
Sources ; clinvar;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) 0.04383 View details
Owner LOVD




Variant on transcripts

2 entries on 1 page. Showing entries 1 - 2.
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Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
GHRL 00003133 NM_016362.3 0000020283 ./. c.269A>T p.(Gln90Leu) - - - - r.(?) -
GHRLOS 00003331 NR_004431.3 0000020283 ./. n.158-645T>A - - - - - r.(?) -
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ClinVar @ MSeqDR

RCVaccession RCV000023422; RCV001723541;
Chromosome 3:10328453..10328453
Allele frequencies from ExAC 0.09061
Allele frequencies from TGP 0.06130
ClinVar Allele ID 20102
Disease database name and identifier Human Phenotype Ontology:HP:0001513, MONDO:MONDO:0011122, MeSH:D009765, MedGen:C0028754, OMIM:601665, SNOMED CT:414916001|MedGen:CN517202
ClinVar preferred disease name Obesity|not provided
HGVS variant names NC 000003.11:g.10328453T>A
ClinVar review status criteria provided, single submitter
Clinical Significance Benign
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:605353.0003
Gene symbol:Gene id. GHRL:51738|GHRLOS:100126793
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 4684677
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