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NM_006311.4(NCOR1):c.5627G>C (p.Arg1876Thr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Sep 3, 2020)
Last evaluated:
Jan 22, 2020
Accession:
VCV000978139.1
Variation ID:
978139
Description:
single nucleotide variant
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NM_006311.4(NCOR1):c.5627G>C (p.Arg1876Thr)

Allele ID
966294
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17p12
Genomic location
17: 16061655 (GRCh38) GRCh38 UCSC
17: 15964969 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.15964969C>G
NC_000017.11:g.16061655C>G
NG_047111.1:g.160092G>C
... more HGVS
Protein change
R1876T
Other names
-
Canonical SPDI
NC_000017.11:16061654:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jan 22, 2020 RCV001256084.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NCOR1 - - GRCh38
GRCh37
24 70

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 22, 2020)
criteria provided, single submitter
Method: clinical testing
Autistic disorder of childhood onset
Intellectual disability
(Autosomal dominant inheritance)
Allele origin: paternal
New York Genome Center
Study: CSER-NYCKidSeq
Accession: SCV001432871.1
Submitted: (Sep 03, 2020)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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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 Sep 24, 2021