Variant #0000473395 (NC_000018.9:g.58038892C>T, NM_005912.2:c.691G>A (MC4R))

Chromosome 18
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.58038892C>T
DNA change (hg38) g.60371659C>T
Published as -
ISCN -
DB-ID MC4R_000137 See all 10 reported entries
Variant remarks -
Reference PubMed: Calton et al 2009
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 6.0E-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 17:24:53 +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.691G>A r.(?) p.(Gly231Ser)


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