NM_001370466.1(NOD2):c.1354C>T (p.Leu452=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002561280.10
Allele description [Variation Report for NM_001370466.1(NOD2):c.1354C>T (p.Leu452=)]
NM_001370466.1(NOD2):c.1354C>T (p.Leu452=)
Condition(s)
- Name:
- Blau syndrome (BLAUS)
- Synonyms:
- Synovitis granulomatous with uveitis and cranial neuropathies; Arthrocutaneouveal granulomatosis; Granulomatosis, familial, Blau type; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008523; MedGen: C5201146; Orphanet: 90340; OMIM: 186580
- Name:
- Regional enteritis
- Synonyms:
- Enteritis, Granulomatous
- Identifiers:
- MeSH: D003424; MedGen: C0678202
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HGD homogentisate 1,2-dioxygenase [Homo sapiens]
HGD homogentisate 1,2-dioxygenase [Homo sapiens]Gene ID:3081Gene
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Gene Links for GEO Profiles (Select 97305408) (1)
Gene
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Homo sapiens chromosome 16 clone RP11-5A19, complete sequence
Homo sapiens chromosome 16 clone RP11-5A19, complete sequencegi|29029228|gnl|lanlchgs|5A19|gb|AC 3.5|Nucleotide
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Talpa occidentalis isolate TD23 talOcc4.13, whole genome shotgun sequence
Talpa occidentalis isolate TD23 talOcc4.13, whole genome shotgun sequencegi|1917191608|gb|RCFO01000013.1||gn :RCFO01|talOcc4.13Nucleotide
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GSE11149[ACCN] AND gsm[ETYP] (8)
GEO DataSets
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024