NM_003995.4(NPR2):c.2351G>A (p.Gly784Asp) AND Acromesomelic dysplasia 1, Maroteaux type
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001166432.4
Allele description [Variation Report for NM_003995.4(NPR2):c.2351G>A (p.Gly784Asp)]
NM_003995.4(NPR2):c.2351G>A (p.Gly784Asp)
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
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yh20e01.r1 Soares placenta Nb2HP Homo sapiens cDNA clone IMAGE:130296 5', mRNA s...
yh20e01.r1 Soares placenta Nb2HP Homo sapiens cDNA clone IMAGE:130296 5', mRNA sequencegi|775965|gnl|dbEST|191201|gb|R2118Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024