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NM_012330.4(KAT6B):c.5213C>T (p.Thr1738Ile)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Dec 8, 2017)
Last evaluated:
Jan 1, 2017
Accession:
VCV000523500.1
Variation ID:
523500
Description:
single nucleotide variant
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NM_012330.4(KAT6B):c.5213C>T (p.Thr1738Ile)

Allele ID
514001
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q22.2
Genomic location
10: 75030037 (GRCh38) GRCh38 UCSC
10: 76789795 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.76789795C>T
NC_000010.11:g.75030037C>T
NM_001256468.1:c.4664C>T NP_001243397.1:p.Thr1555Ile missense
... more HGVS
Protein change
T1738I
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA377300392
dbSNP: rs1554846212
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Jan 1, 2017 RCV000626910.1
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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
112 246
DUPD1 - - GRCh38
GRCh38
GRCh37
- 132

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jan 01, 2017)
criteria provided, single submitter
Method: clinical testing
Abnormal facial shape
Cryptorchidism
Hypertelorism
Intellectual disability
Short distal phalanx of toe
Short nose
Spinal deformities
Talipes equinovarus
Tapered finger
Allele origin: unknown
Centre for Mendelian Genomics,University Medical Centre Ljubljana
Accession: SCV000747613.1
Submitted: (Dec 08, 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 Oct 27, 2019