NM_173558.4(FGD2):c.446T>C (p.Val149Ala) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004393948.1
Allele description [Variation Report for NM_173558.4(FGD2):c.446T>C (p.Val149Ala)]
NM_173558.4(FGD2):c.446T>C (p.Val149Ala)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Homo sapiens regulator of microtubule dynamics 2 (RMDN2), transcript variant 1, ...
Homo sapiens regulator of microtubule dynamics 2 (RMDN2), transcript variant 1, mRNAgi|283046685|ref|NM_144713.3|Nucleotide
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RecName: Full=Orexigenic neuropeptide QRFP; AltName: Full=P518; Contains: RecNam...
RecName: Full=Orexigenic neuropeptide QRFP; AltName: Full=P518; Contains: RecName: Full=QRF-amide; AltName: Full=Neuropeptide RF-amide; AltName: Full=Pyroglutamylated arginine-phenylalanine-amide peptide; Flags: Precursorgi|50400831|sp|P83859.1|OX26_HUMANProtein
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See more...Assertion and evidence details
Last Updated: May 7, 2024