NM_006371.5(CRTAP):c.115G>T (p.Asp39Tyr) AND Osteogenesis imperfecta type 7
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 23, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001312793.3
Allele description [Variation Report for NM_006371.5(CRTAP):c.115G>T (p.Asp39Tyr)]
NM_006371.5(CRTAP):c.115G>T (p.Asp39Tyr)
Condition(s)
- Name:
- Osteogenesis imperfecta type 7 (OI7)
- Synonyms:
- OI type 7; OI type VII; OSTEOGENESIS IMPERFECTA, TYPE IIB; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012536; MedGen: C1853162; OMIM: 610682
-
intraflagellar transport protein 172 homolog isoform X4 [Homo sapiens]
intraflagellar transport protein 172 homolog isoform X4 [Homo sapiens]gi|2217326913|ref|XP_047299858.1|Protein
-
Lacertidae phosducin (pdc) gene, partial cds.
Lacertidae phosducin (pdc) gene, partial cds.PopSet: 2029759440PopSet
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024