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NM_012330.4(KAT6B):c.3544G>A (p.Glu1182Lys)

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Interpretation:
Likely benign​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Feb 16, 2017)
Accession:
VCV000377388.1
Variation ID:
377388
Description:
single nucleotide variant
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NM_012330.4(KAT6B):c.3544G>A (p.Glu1182Lys)

Allele ID
364270
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q22.2
Genomic location
10: 75025129 (GRCh38) GRCh38 UCSC
10: 76784887 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.76784887G>A
NC_000010.11:g.75025129G>A
NM_001256468.1:c.2995G>A NP_001243397.1:p.Glu999Lys missense
... more HGVS
Protein change
E1182K
Other names
-
Functional consequence
unknown functional consequence
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1057519623
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 no assertion criteria provided - RCV000427115.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KAT6B Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh38
GRCh37
107 238

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
Mental retardation, autosomal dominant
(Autosomal dominant inheritance)
Allele origin: maternal
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille
Accession: SCV000485040.1
Submitted: (Feb 16, 2017)
Evidence details

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Aug 25, 2019