NM_182641.4(BPTF):c.5694G>A (p.Arg1898=) AND not provided
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 22, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000967460.6
Allele description
NM_182641.4(BPTF):c.5694G>A (p.Arg1898=)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
Homo sapiens sorting nexin 22 (SNX22), transcript variant 2, non-coding RNA
Homo sapiens sorting nexin 22 (SNX22), transcript variant 2, non-coding RNAgi|1701969753|ref|NR_073534.2|Nucleotide
-
Mus musculus COMM domain containing 9 (Commd9), mRNA
Mus musculus COMM domain containing 9 (Commd9), mRNAgi|146149069|ref|NM_029635.3|Nucleotide
-
RecName: Full=Sorting nexin-22
RecName: Full=Sorting nexin-22gi|20140142|sp|Q96L94.1|SNX22_HUMANProtein
-
Chain 2, NUCLEOPORIN NUP37
Chain 2, NUCLEOPORIN NUP37gi|931139941|pdb|5A9Q|2Protein
-
Chain I, NUCLEOPORIN NUP43
Chain I, NUCLEOPORIN NUP43gi|931139957|pdb|5A9Q|IProtein
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See more...Assertion and evidence details
Last Updated: Apr 15, 2024