chr4:1804377:G>T Detail (hg38) (FGFR3)

Information

Genome

Assembly Position
hg19 chr4:1,806,104-1,806,104 View the variant detail on this assembly version.
hg38 chr4:1,804,377-1,804,377

HGVS

Type Transcript Protein
RefSeq NM_001163213.1:c.1129G>T NP_001156685.1:p.Gly377Cys
NM_022965.3:c.1111G>T NP_075254.1:p.Gly371Cys
NM_000142.4:c.1123G>T NP_000133.1:p.Gly375Cys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 134934 OMIM
HGNC 3690 HGNC
Ensembl ENSG00000068078 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1999-12-01 no assertion criteria provided achondroplasia germline Detail
Pathogenic 2023-04-03 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.621 achondroplasia NA CLINVAR Detail
0.621 achondroplasia A mouse model for achondroplasia was generated by introducing the human mutation... BeFree 11518810 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000142.5(FGFR3):c.1123G>T (p.Gly375Cys) AND Achondroplasia ClinVar Detail
NM_000142.5(FGFR3):c.1123G>T (p.Gly375Cys) AND not provided ClinVar Detail
NA DisGeNET Detail
A mouse model for achondroplasia was generated by introducing the human mutation (glycine 380-argini... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs75790268 dbSNP
Genome
hg38
Position
chr4:1,804,377-1,804,377
Variant Type
snv
Reference Allele
G
Alternative Allele
T
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