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NM_001370298.3(FGD4):c.1081C>T (p.Arg361Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jul 4, 2021)
Last evaluated:
Oct 1, 2020
Accession:
VCV000001011.5
Variation ID:
1011
Description:
single nucleotide variant
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NM_001370298.3(FGD4):c.1081C>T (p.Arg361Ter)

Allele ID
16050
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p11.21
Genomic location
12: 32598566 (GRCh38) GRCh38 UCSC
12: 32751500 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.32751500C>T
NC_000012.12:g.32598566C>T
NG_008626.2:g.204038C>T
... more HGVS
Protein change
R224*, R309*, R40*, R131*, R361*
Other names
-
Canonical SPDI
NC_000012.12:32598565:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA251667
OMIM: 611104.0001
dbSNP: rs118203972
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Oct 1, 2020 RCV001311296.2
Pathogenic 1 no assertion criteria provided Jul 1, 2007 RCV000001066.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FGD4 - - GRCh38
GRCh37
503 539

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Oct 01, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001501408.3
Submitted: (Jul 04, 2021)
Evidence details
Pathogenic
(Jul 01, 2007)
no assertion criteria provided
Method: literature only
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H
Allele origin: germline
OMIM
Accession: SCV000021216.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

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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Title Author Journal Year Link
Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4. Stendel C American journal of human genetics 2007 PMID: 17564972

Text-mined citations for rs118203972...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 24, 2021