Variant #0000473270 (NC_000018.9:g.58039075T>C, NM_005912.2:c.508A>G (MC4R))

Individual ID 00230277
Chromosome 18
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.58039075T>C
DNA change (hg38) g.60371842T>C
Published as -
ISCN -
DB-ID MC4R_000104 See all 14 reported entries
Variant remarks no homozygotes; This variant has also been found in lean individuals. Mutant receptors behaved like wild-type in functional assays.
Reference PubMed: van den Berg et al 2010
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency 1/582
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 9.0E-5 View details
Owner Linda van den Berg
Database submission license No license selected
Created by Linda van den Berg
Date created 2010-10-22 15:10:09 +02:00 (CEST)
Date last edited 2011-01-18 17:14:07 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MC4R NM_005912.2 -?/-? ? c.508A>G r.(?) p.(Ile170Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000231371 DNA SEQ - - MC4R 1 Linda van den Berg


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