NM_005912.3(MC4R):c.185A>G (p.Asn62Ser) AND Obesity due to melanocortin 4 receptor deficiency
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Sep 28, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004017251.1
Allele description [Variation Report for NM_005912.3(MC4R):c.185A>G (p.Asn62Ser)]
NM_005912.3(MC4R):c.185A>G (p.Asn62Ser)
Condition(s)
- Name:
- Obesity due to melanocortin 4 receptor deficiency
- Identifiers:
- MONDO: MONDO:0019115; MedGen: C4273958
-
Homo sapiens chromatin assembly factor 1 subunit B (CHAF1B), mRNA
Homo sapiens chromatin assembly factor 1 subunit B (CHAF1B), mRNAgi|1519314994|ref|NM_005441.3|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 7, 2024