chr18:60371544:A>T Detail (hg38) (MC4R)

Information

Genome

Assembly Position
hg19 chr18:58,038,777-58,038,777 View the variant detail on this assembly version.
hg38 chr18:60,371,544-60,371,544

HGVS

Type Transcript Protein
RefSeq NM_005912.2:c.806T>A NP_005903.2:p.Ile269Asn
Ensemble ENST00000299766.5:c.806T>A ENST00000299766.5:p.Ile269Asn
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 155541 OMIM
HGNC 6932 HGNC
Ensembl ENSG00000166603 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv403190875 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2020-01-22 criteria provided, single submitter obesity germline Detail
Uncertain significance 2019-01-25 criteria provided, multiple submitters, no conflicts not specified germline Detail
Conflicting interpretations of pathogenicity 2024-01-15 criteria provided, conflicting interpretations not provided germline unknown Detail
Conflicting interpretations of pathogenicity 2022-04-22 criteria provided, conflicting interpretations BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 germline unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.791 obesity NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn) AND Obesity ClinVar Detail
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn) AND not specified ClinVar Detail
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn) AND not provided ClinVar Detail
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn) AND BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs79783591 dbSNP
Genome
hg38
Position
chr18:60,371,544-60,371,544
Variant Type
snv
Reference Allele
A
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8646
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121400
Allele Counts in All Race (ExAC)
98
Heterozygous Counts in All Race (ExAC)
98
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.072487644151565E-4
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