NM_003995.4(NPR2):c.1227C>T (p.Ala409=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 7, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002135144.6
Allele description [Variation Report for NM_003995.4(NPR2):c.1227C>T (p.Ala409=)]
NM_003995.4(NPR2):c.1227C>T (p.Ala409=)
Condition(s)
- Name:
- Acromesomelic dysplasia 1, Maroteaux type (AMD1)
- Synonyms:
- Acromesomelic dwarfism Maroteux type; ST. HELENA DYSPLASIA; Acromesomelic dysplasia, Maroteaux type; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011275; MedGen: C1864356; Orphanet: 40; OMIM: 602875
-
Familial colorectal cancer type X
Familial colorectal cancer type XMedGen
-
C3896578[conceptid] (1)
MedGen
-
Arabidopsis thaliana hypothetical protein (DUF295) (AT5G55890), partial mRNA
Arabidopsis thaliana hypothetical protein (DUF295) (AT5G55890), partial mRNAgi|18423798|ref|NM_124971.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024