ClinVar Genomic variation as it relates to human health
MC4R, 2-BP INS, 279GT
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 |
171 | 245 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 20, 2003 | RCV000015403.26 |
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 155541.0012. The location of "279insGT" was not specified.