chr4:1805643:A>G Detail (hg38) (FGFR3)

Information

Genome

Assembly Position
hg19 chr4:1,807,370-1,807,370 View the variant detail on this assembly version.
hg38 chr4:1,805,643-1,805,643

HGVS

Type Transcript Protein
RefSeq NM_001163213.1:c.1625A>G NP_001156685.1:p.Asn542Ser
NM_022965.3:c.1607A>G NP_075254.1:p.Asn536Ser
NM_000142.4:c.1619A>G NP_000133.1:p.Asn540Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
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 tgv15809963 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-02-23 criteria provided, single submitter hypochondroplasia germline paternal unknown Detail
Uncertain significance 2016-04-25 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2023-11-14 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2022-12-28 criteria provided, multiple submitters, no conflicts achondroplasia germline unknown Detail
Pathogenic criteria provided, single submitter inherited Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.495 Hypochondroplasia (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000142.5(FGFR3):c.1619A>G (p.Asn540Ser) AND Hypochondroplasia ClinVar Detail
NM_000142.5(FGFR3):c.1619A>G (p.Asn540Ser) AND Inborn genetic diseases ClinVar Detail
NM_000142.5(FGFR3):c.1619A>G (p.Asn540Ser) AND not provided ClinVar Detail
NM_000142.5(FGFR3):c.1619A>G (p.Asn540Ser) AND Achondroplasia ClinVar Detail
NM_000142.5(FGFR3):c.1619A>G (p.Asn540Ser) AND Neurodevelopmental delay ClinVar Detail
NA 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
rs77722678 dbSNP
Genome
hg38
Position
chr4:1,805,643-1,805,643
Variant Type
snv
Reference Allele
A
Alternative Allele
G
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs77722678
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8618
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
120188
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.320298199487469E-6
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