NM_001378452.1(ITPR1):c.3830T>A (p.Ile1277Asn) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 9, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000517029.2
Allele description [Variation Report for NM_001378452.1(ITPR1):c.3830T>A (p.Ile1277Asn)]
NM_001378452.1(ITPR1):c.3830T>A (p.Ile1277Asn)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Homologene neighbors for GEO Profiles (Select 128563436) (0)
GEO Profiles
-
ECE1 endothelin converting enzyme 1 [Homo sapiens]
ECE1 endothelin converting enzyme 1 [Homo sapiens]Gene ID:1889Gene
-
Gene Links for GEO Profiles (Select 34493999) (1)
Gene
-
Gene Links for GEO Profiles (Select 21550827) (1)
Gene
-
Tjp3 tight junction protein 3 [Mus musculus]
Tjp3 tight junction protein 3 [Mus musculus]Gene ID:27375Gene
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Last Updated: May 7, 2024