View genomic variant #0000000930

Chromosome 3
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.10331519C>T
Published as -
GERP 4.880
Segregation -
DB-ID GHRL_000001 See all 2 reported entries
MSCV MSCV_0000930
dbSNP ID rs34911341
Frequency -
Sources ; clinVar; Ensembl;
Reference 16204371;11502844;12050239
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) 0.00461 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 0000000930 +?/+? c.152G>A p.(Arg51Gln) missense_variant - 2/3 probably_damaging(0.968) r.(?) deleterious(0)
GHRLOS 00003331 NR_004431.3 0000000930 +?/+? n.383+1733C>T - - - - - - -
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ClinVar @ MSeqDR

RCVaccession RCV000005364; RCV000033194;
Chromosome 3:10331519..10331519
Allele frequencies from ExAC 0.00692
Allele frequencies from TGP 0.00260
ClinVar Allele ID 20100
Disease database name and identifier Human Phenotype Ontology:HP:0001513, MONDO:MONDO:0011122, MeSH:D009765, MedGen:C0028754, OMIM:601665, SNOMED CT:414916001|MedGen:C2676079
ClinVar preferred disease name Obesity|Metabolic syndrome, susceptibility to
HGVS variant names NC 000003.11:g.10331519C>T
ClinVar review status no assertion criteria provided
Clinical Significance risk factor
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:605353.0001
Gene symbol:Gene id. GHRL:51738|GHRLOS:100126793
Molecular consequence SO:0001583|missense variant, SO:0001627|intron variant
Allele origin germline
dbSNP ID 34911341
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