NM_007315.4(STAT1):c.1765G>T (p.Ala589Ser) AND multiple conditions
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- May 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000678288.10
Allele description
NM_007315.4(STAT1):c.1765G>T (p.Ala589Ser)
Condition(s)
- Name:
- Immunodeficiency 31B
- Synonyms:
- STAT1 DEFICIENCY, AUTOSOMAL RECESSIVE; Mycobacterial and viral infections, susceptibility to, autosomal recessive; IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE
- Identifiers:
- MONDO: MONDO:0013427; MedGen: C3151088; OMIM: 613796
-
PREDICTED: Lepisosteus oculatus Beta-1,3-galactosyltransferase 1 (b3galt1), tran...
PREDICTED: Lepisosteus oculatus Beta-1,3-galactosyltransferase 1 (b3galt1), transcript variant X2, mRNAgi|973160728|ref|XM_015359050.1|Nucleotide
-
Homo sapiens deltex E3 ubiquitin ligase 1 (DTX1), mRNA
Homo sapiens deltex E3 ubiquitin ligase 1 (DTX1), mRNAgi|1862756383|ref|NM_004416.3|Nucleotide
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Last Updated: Aug 11, 2024