NM_000520.6(HEXA):c.1297G>A (p.Asp433Asn) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 2, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003299781.2
Allele description [Variation Report for NM_000520.6(HEXA):c.1297G>A (p.Asp433Asn)]
NM_000520.6(HEXA):c.1297G>A (p.Asp433Asn)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
hypothetical protein CB0101_01120 [Synechococcus sp. CB0101]
hypothetical protein CB0101_01120 [Synechococcus sp. CB0101]gi|1626690454|gnl|PRJNA46501|CB0101 0|gb|QCH13717.1|Protein
-
alpha amylase catalytic region [Streptomyces violaceusniger Tu 4113]
alpha amylase catalytic region [Streptomyces violaceusniger Tu 4113]gi|344035772|gnl|jgi|Strvi_1759|gb| 497.1|Protein
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Last Updated: May 1, 2024