NM_019888.3(MC3R):c.437T>A (p.Ile146Asn)

Variation ID: Help
14339
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
risk factor
Last evaluated:
Aug 1, 2004
Number of submission(s):
1
Condition(s):
Body mass index quantitative trait locus 9[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_019888.3(MC3R):c.437T>A (p.Ile146Asn)

Allele ID:
29378
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.2
Genomic location:
  • Chr20: 56249280 (on Assembly GRCh38)
  • Chr20: 54824336 (on Assembly GRCh37)
Protein change:
I183N, I146N
HGVS:
  • NG_012200.1:g.5549T>A
  • NM_019888.3:c.437T>A
  • NP_063941.3:p.Ile146Asn
  • NC_000020.11:g.56249280T>A (GRCh38)
  • NC_000020.10:g.54824336T>A (GRCh37)
  • P41968:p.Ile146Asn
Links:
NCBI 1000 Genomes Browser:
rs74315393
Molecular consequence:
NM_019888.3:c.437T>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
ExAC 0.00003 (A)

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
risk factor
(Aug 1, 2004)
no assertion criteria providedliterature only
  • Body mass index quantitative trait locus 9[MedGen | OMIM]
germlineOMIMSCV000043946.4
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Sep 6, 2017