ClinVar Genomic variation as it relates to human health
MC4R, 1-BP INS, 112A
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
MC4R | - | - |
GRCh38 GRCh37 |
172 | 246 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 20, 2003 | RCV000015401.22 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022
NCBI staff could not provide an HGVS expression for allelic variant 155541.0010. The location of "Insertion of A at codon 112 was not specified".