NM_138694.4(PKHD1):c.10859G>A (p.Arg3620His) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 26, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003151109.2
Allele description [Variation Report for NM_138694.4(PKHD1):c.10859G>A (p.Arg3620His)]
NM_138694.4(PKHD1):c.10859G>A (p.Arg3620His)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Mus musculus histocompatibility 2, T region locus 9 (H2-T9), mRNA
Mus musculus histocompatibility 2, T region locus 9 (H2-T9), mRNAgi|6754149|ref|NM_010399.1|Nucleotide
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Homologene neighbors for GEO Profiles (Select 116341437) (0)
GEO Profiles
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Homologene neighbors for GEO Profiles (Select 75502810) (0)
GEO Profiles
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GJC3 gap junction protein gamma 3 [Homo sapiens]
GJC3 gap junction protein gamma 3 [Homo sapiens]Gene ID:349149Gene
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Gene Links for GEO Profiles (Select 116337994) (1)
Gene
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024