NM_007315.4(STAT1):c.884C>A (p.Thr295Lys) AND Chronic mucocutaneous candidiasis
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 17, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001667870.1
Allele description [Variation Report for NM_007315.4(STAT1):c.884C>A (p.Thr295Lys)]
NM_007315.4(STAT1):c.884C>A (p.Thr295Lys)
Condition(s)
- Name:
- Chronic mucocutaneous candidiasis
- Identifiers:
- MONDO: MONDO:0015279; MedGen: C0006845; Orphanet: 1334; OMIM: PS114580; Human Phenotype Ontology: HP:0002728
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Pseudomonas aeruginosa isolate t44_d1_D1 genome assembly, contig: 4, whole genom...
Pseudomonas aeruginosa isolate t44_d1_D1 genome assembly, contig: 4, whole genome shotgun sequencegi|2627710313|emb|CAUMDU010000004.1 |WGS:CAUMDU01|4Nucleotide
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Pseudomonas aeruginosa isolate t44_d1_D1 genome assembly, contig: 17, whole geno...
Pseudomonas aeruginosa isolate t44_d1_D1 genome assembly, contig: 17, whole genome shotgun sequencegi|2627710291|emb|CAUMDU010000017.1 |WGS:CAUMDU01|17Nucleotide
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Pseudomonas aeruginosa isolate t44_d1_D1 genome assembly, contig: 18, whole geno...
Pseudomonas aeruginosa isolate t44_d1_D1 genome assembly, contig: 18, whole genome shotgun sequencegi|2627710290|emb|CAUMDU010000018.1 |WGS:CAUMDU01|18Nucleotide
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wt73d02.x1 Soares_thymus_NHFTh Homo sapiens cDNA clone IMAGE:2513091 3', mRNA se...
wt73d02.x1 Soares_thymus_NHFTh Homo sapiens cDNA clone IMAGE:2513091 3', mRNA sequencegi|5886089|gnl|dbEST|3157843|gb|AW0 .1|Nucleotide
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Zingiber officinale cultivar Zhangliang chromosome 8B, whole genome shotgun sequ...
Zingiber officinale cultivar Zhangliang chromosome 8B, whole genome shotgun sequencegi|2043671630|gb|CM031525.1||gnl|WG MSC|chr08BNucleotide
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Last Updated: Dec 24, 2023