NM_000022.4(ADA):c.621C>T (p.Ser207=) AND Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 12, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000946412.9
Allele description [Variation Report for NM_000022.4(ADA):c.621C>T (p.Ser207=)]
NM_000022.4(ADA):c.621C>T (p.Ser207=)
Condition(s)
- Name:
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
- Synonyms:
- ADA-SCID; SCID DUE TO ADA DEFICIENCY, EARLY-ONSET; ADA deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007064; MedGen: C1863236; Orphanet: 277; OMIM: 102700
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Escherichia coli strain 74 polisoprenol-linked O-antigen transporter (rfbX) gene...
Escherichia coli strain 74 polisoprenol-linked O-antigen transporter (rfbX) gene, partial cdsgi|2625146260|gb|OR826277.1|Nucleotide
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Escherichia coli strain 74 plasmid QnrS family quinolone resistance pentapeptide...
Escherichia coli strain 74 plasmid QnrS family quinolone resistance pentapeptide repeat protein (qnrS) gene, partial cdsgi|2625146258|gb|OR826276.1|Nucleotide
-
Escherichia coli strain 21 O16 family O-antigen flippase gene, partial cds
Escherichia coli strain 21 O16 family O-antigen flippase gene, partial cdsgi|2490826810|gb|OQ469820.1|Nucleotide
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tmtc1 [Leucoraja erinaceus]
tmtc1 [Leucoraja erinaceus]Gene ID:129706222Gene
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Last Updated: Oct 13, 2024