NM_005555.4(KRT6B):c.533T>A (p.Ile178Asn) AND not provided
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000493627.1
Allele description [Variation Report for NM_005555.4(KRT6B):c.533T>A (p.Ile178Asn)]
NM_005555.4(KRT6B):c.533T>A (p.Ile178Asn)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: CN517202
-
LDB3 LIM domain binding 3 [Homo sapiens]
LDB3 LIM domain binding 3 [Homo sapiens]Gene ID:11155Gene
-
Gene Links for GEO Profiles (Select 131591279) (1)
Gene
-
Chromosome neighbors for GEO Profiles (Select 131595599) (20)
GEO Profiles
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RecName: Full=Monocarboxylate transporter 5; Short=MCT 5; AltName: Full=Monocarb...
RecName: Full=Monocarboxylate transporter 5; Short=MCT 5; AltName: Full=Monocarboxylate transporter 4; Short=MCT 4; AltName: Full=Solute carrier family 16 member 4gi|6225706|sp|O15374.1|MOT5_HUMANProtein
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CENPI centromere protein I [Homo sapiens]
CENPI centromere protein I [Homo sapiens]Gene ID:2491Gene
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Last Updated: Apr 23, 2022