NM_000061.3(BTK):c.240G>A (p.Pro80=) AND Inherited Immunodeficiency Diseases
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 1, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001027548.1
Allele description [Variation Report for NM_000061.3(BTK):c.240G>A (p.Pro80=)]
NM_000061.3(BTK):c.240G>A (p.Pro80=)
Condition(s)
- Name:
- Inherited Immunodeficiency Diseases
- Identifiers:
- MeSH: D000081207; MedGen: C5197805
-
cytochrome oxidase subunit 1, partial (mitochondrion) [Lepeophtheirus salmonis]
cytochrome oxidase subunit 1, partial (mitochondrion) [Lepeophtheirus salmonis]gi|211997507|gb|ACJ14707.1|Protein
-
Enterobacter sp. UIWRF0759 16S ribosomal RNA gene, partial sequence
Enterobacter sp. UIWRF0759 16S ribosomal RNA gene, partial sequencegi|861557058|gb|KR189987.1|Nucleotide
-
Pathogen sample from Salmonella enterica
Pathogen sample from Salmonella entericabiosample
-
PREDICTED: ETS translocation variant 4 isoform X1 [Lepisosteus oculatus]
PREDICTED: ETS translocation variant 4 isoform X1 [Lepisosteus oculatus]gi|573900907|ref|XP_006638181.1|Protein
-
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Last Updated: Mar 10, 2024