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NM_198173.3(GRHL3):c.32G>A (p.Arg11Gln)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jun 13, 2021)
Last evaluated:
Mar 1, 2021
Accession:
VCV001172585.1
Variation ID:
1172585
Description:
single nucleotide variant
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NM_198173.3(GRHL3):c.32G>A (p.Arg11Gln)

Allele ID
1161774
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.11
Genomic location
1: 24331440 (GRCh38) GRCh38 UCSC
1: 24657930 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.24657930G>A
NC_000001.11:g.24331440G>A
NM_198173.3:c.32G>A MANE Select NP_937816.1:p.Arg11Gln missense
... more HGVS
Protein change
R11Q, R16Q
Other names
-
Canonical SPDI
NC_000001.11:24331439:G:A
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
Likely pathogenic 1 no assertion criteria provided Mar 1, 2021 RCV001530961.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GRHL3 - - GRCh38
GRCh37
70 87

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Mar 01, 2021)
no assertion criteria provided
Method: research
nonsyndromic cleft palate
Allele origin: de novo
Orthodontics Department,Peking University School and Hospital of Stomatology
Accession: SCV001733601.1
Submitted: (Jun 13, 2021)
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 Jul 13, 2021