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NM_001370298.3(FGD4):c.1609C>T (p.Leu537=)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 7, 2020)
Accession:
VCV000917303.1
Variation ID:
917303
Description:
single nucleotide variant
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NM_001370298.3(FGD4):c.1609C>T (p.Leu537=)

Allele ID
905361
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p11.21
Genomic location
12: 32611143 (GRCh38) GRCh38 UCSC
12: 32764077 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_240:g.216615C>T
LRG_240t2:c.1453C>T LRG_240p2:p.Leu485=
LRG_240t1:c.1198C>T LRG_240p1:p.Leu400=
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:32611142:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs750265200
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter - RCV001174094.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
Likely benign
(-)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease
Allele origin: germline
Molecular Genetics Laboratory,London Health Sciences Centre
Accession: SCV001337215.1
Submitted: (Apr 07, 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.

Text-mined citations for rs750265200...

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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 Nov 27, 2021