NM_012330.4(KAT6B):c.3730T>C (p.Cys1244Arg) AND Genitopatellar syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 20, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003646952.2
Allele description [Variation Report for NM_012330.4(KAT6B):c.3730T>C (p.Cys1244Arg)]
NM_012330.4(KAT6B):c.3730T>C (p.Cys1244Arg)
Condition(s)
-
olfactory receptor 12D2-like [Mus caroli]
olfactory receptor 12D2-like [Mus caroli]gi|1195698392|ref|XP_021005635.1|Protein
-
hypothetical protein IM014_gp119 [African swine fever virus]
hypothetical protein IM014_gp119 [African swine fever virus]gi|1916862895|ref|YP_009927209.1|Protein
-
Homo sapiens T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 (TC...
Homo sapiens T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 (TCIRG1), RefSeqGene (LRG_115) on chromosome 11; nuclear gene for mitochondrial productgi|188595704|ref|NG_007878.1||gnl|L G_115Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024