NC_000005.10:g.(?_35860832)_(35871233_?)del AND Immunodeficiency 104
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000805916.9
Allele description [Variation Report for NC_000005.10:g.(?_35860832)_(35871233_?)del]
NC_000005.10:g.(?_35860832)_(35871233_?)del
Condition(s)
- Name:
- Immunodeficiency 104
- Synonyms:
- SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive; IMMUNODEFICIENCY 104, SEVERE COMBINED; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012163; MedGen: C5676890; OMIM: 608971
-
SRP493697 (5)
SRA
-
flavin-containing monooxygenase 2 isoform e [Homo sapiens]
flavin-containing monooxygenase 2 isoform e [Homo sapiens]gi|2633575850|ref|NP_001413307.1|Protein
-
maturase K, partial (chloroplast) [Hibiscus schizopetalus]
maturase K, partial (chloroplast) [Hibiscus schizopetalus]gi|2159125150|gb|UFQ89582.1|Protein
-
PABIR family member 1 isoform X1 [Homo sapiens]
PABIR family member 1 isoform X1 [Homo sapiens]gi|2462628455|ref|XP_054182549.1|Protein
-
circadian-associated transcriptional repressor isoform b [Homo sapiens]
circadian-associated transcriptional repressor isoform b [Homo sapiens]gi|664805957|ref|NP_001287769.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024