NM_000528.4(MAN2B1):c.2047A>G (p.Thr683Ala) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 13, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003060915.2
Allele description [Variation Report for NM_000528.4(MAN2B1):c.2047A>G (p.Thr683Ala)]
NM_000528.4(MAN2B1):c.2047A>G (p.Thr683Ala)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
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ABO blood group system
ABO blood group systemMedGen
-
Profile neighbors for GEO Profiles (Select 85252645) (200)
GEO Profiles
-
Gene Links for GEO Profiles (Select 85226036) (1)
Gene
-
IL13RA1 interleukin 13 receptor subunit alpha 1 [Homo sapiens]
IL13RA1 interleukin 13 receptor subunit alpha 1 [Homo sapiens]Gene ID:3597Gene
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Last Updated: Sep 16, 2024