NM_005199.5(CHRNG):c.401_402del (p.Pro134fs) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 29, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002496856.2
Allele description [Variation Report for NM_005199.5(CHRNG):c.401_402del (p.Pro134fs)]
NM_005199.5(CHRNG):c.401_402del (p.Pro134fs)
Condition(s)
- Name:
- Autosomal recessive multiple pterygium syndrome
- Synonyms:
- MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; Multiple pterygium syndrome Escobar type; Multiple pterygium syndrome nonlethal type; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009926; MedGen: C0265261; Orphanet: 2990; OMIM: 265000
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Homo sapiens ets variant 6, mRNA (cDNA clone MGC:50884 IMAGE:6014394), complete ...
Homo sapiens ets variant 6, mRNA (cDNA clone MGC:50884 IMAGE:6014394), complete cdsgi|27695075|gb|BC043399.1|Nucleotide
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RecName: Full=Zinc finger protein 846
RecName: Full=Zinc finger protein 846gi|187671939|sp|Q147U1.2|ZN846_HUMAProtein
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LOC124903499 [Homo sapiens]
LOC124903499 [Homo sapiens]Gene ID:124903499Gene
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LOC116621197 [Nematostella vectensis]
LOC116621197 [Nematostella vectensis]Gene ID:116621197Gene
-
LOC116621199 [Nematostella vectensis]
LOC116621199 [Nematostella vectensis]Gene ID:116621199Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024