NM_001038603.3(MARVELD2):c.922G>C (p.Ala308Pro) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 12, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002974614.2
Allele description [Variation Report for NM_001038603.3(MARVELD2):c.922G>C (p.Ala308Pro)]
NM_001038603.3(MARVELD2):c.922G>C (p.Ala308Pro)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
ilCloTita1 hap1
ilCloTita1 hap1Clossiana titania (Titania's fritillary) genome assembly, ilCloTita1 haplotype 1BioProject
-
neonatalDRG, CGM_96_94
neonatalDRG, CGM_96_94biosample
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See more...Assertion and evidence details
Last Updated: May 1, 2024