NM_001250.6(CD40):c.606C>T (p.Phe202=) AND Hyper-IgM syndrome type 3
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- Nov 29, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001000341.13
Allele description [Variation Report for NM_001250.6(CD40):c.606C>T (p.Phe202=)]
NM_001250.6(CD40):c.606C>T (p.Phe202=)
Condition(s)
-
PREDICTED: Piliocolobus tephrosceles solute carrier family 11 member 1 (SLC11A1)...
PREDICTED: Piliocolobus tephrosceles solute carrier family 11 member 1 (SLC11A1), transcript variant X8, mRNAgi|1482582025|ref|XM_026454732.1|Nucleotide
-
PR domain zinc finger protein 5 isoform X3 [Gorilla gorilla gorilla]
PR domain zinc finger protein 5 isoform X3 [Gorilla gorilla gorilla]gi|2493467776|ref|XP_055241772.1|Protein
-
furin isoform 1 preproprotein [Homo sapiens]
furin isoform 1 preproprotein [Homo sapiens]gi|577019578|ref|NP_001276752.1|Protein
-
leotiomyceta 18S ribosomal RNA gene, partial sequence; internal transcribed spac...
leotiomyceta 18S ribosomal RNA gene, partial sequence; internal transcribed spacer 1, 5.8S ribosomal RNA gene, and internal transcribed spacer 2, complete sequence; and 28S ribosomal RNA gene, partial sequence.PopSet: 1573763169PopSet
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024