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) |

Variant on transcripts
Screenings
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