NM_018344.6(SLC29A3):c.1133C>T (p.Ala378Val) AND H syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 24, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001242909.5
Allele description [Variation Report for NM_018344.6(SLC29A3):c.1133C>T (p.Ala378Val)]
NM_018344.6(SLC29A3):c.1133C>T (p.Ala378Val)
Condition(s)
- Name:
- H syndrome
- Synonyms:
- Histiocytosis with joint contractures and sensorineural deafness; Faisalabad histiocytosis; HISTIOCYTOSIS AND LYMPHADENOPATHY WITH OR WITHOUT CUTANEOUS, CARDIAC, AND/OR ENDOCRINE FEATURES, JOINT CONTRACTURES, AND/OR DEAFNESS; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011273; MedGen: C1864445; Orphanet: 168569; OMIM: 602782
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DECAPseq_ESC_WT_rep1
DECAPseq_ESC_WT_rep1biosample
-
acid-sensing ion channel 3 isoform c [Homo sapiens]
acid-sensing ion channel 3 isoform c [Homo sapiens]gi|9998948|ref|NP_064718.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024