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NM_000142.5(FGFR3):c.1882G>A (p.Asp628Asn)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jun 5, 2018)
Last evaluated:
Jun 6, 2018
Accession:
VCV000545425.2
Variation ID:
545425
Description:
single nucleotide variant
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NM_000142.5(FGFR3):c.1882G>A (p.Asp628Asn)

Allele ID
535686
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4p16.3
Genomic location
4: 1806096 (GRCh38) GRCh38 UCSC
4: 1807823 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.1807823G>A
NC_000004.12:g.1806096G>A
NG_012632.1:g.17785G>A
... more HGVS
Protein change
D628N, D630N, D516N, D629N
Other names
-
Canonical SPDI
NC_000004.12:1806095:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
OMIM: 134934.0038
dbSNP: rs1453271838
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Jun 6, 2018 RCV000656386.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FGFR3 No evidence available No evidence available GRCh38
GRCh37
373 509

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jun 06, 2018)
no assertion criteria provided
Method: literature only
LADD SYNDROME
Allele origin: germline
OMIM
Accession: SCV000778392.1
Submitted: (Jun 05, 2018)
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
Identification of a novel missence mutation in FGFR3 gene in an Iranian family with LADD syndrome by Next-Generation Sequencing. Talebi F International journal of pediatric otorhinolaryngology 2017 PMID: 28483234

Text-mined citations for rs1453271838...

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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 Sep 29, 2021