NM_012144.4(DNAI1):c.1902C>T (p.His634=) AND not specified
- Germline classification:
- Likely benign (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000242461.6
Allele description [Variation Report for NM_012144.4(DNAI1):c.1902C>T (p.His634=)]
NM_012144.4(DNAI1):c.1902C>T (p.His634=)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
RecName: Full=Golgi apparatus membrane protein TVP23 homolog A
RecName: Full=Golgi apparatus membrane protein TVP23 homolog Agi|182649415|sp|A6NH52.3|TV23A_HUMAProtein
-
Mus musculus ubiquitin specific peptidase 2 (Usp2), transcript variant 2, mRNA
Mus musculus ubiquitin specific peptidase 2 (Usp2), transcript variant 2, mRNAgi|114052525|ref|NM_198091.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024