chr4:1807388:C>A Detail (hg19) (FGFR3)

Information

Genome

Assembly Position
hg19 chr4:1,807,388-1,807,388
hg38 chr4:1,805,661-1,805,661 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001163213.1:c.1643C>A NP_001156685.1:p.Thr548Lys
NM_022965.3:c.1625C>A NP_075254.1:p.Thr542Lys
NM_000142.4:c.1637C>A NP_000133.1:p.Thr546Lys
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 2014-08-01 no assertion criteria provided camptodactyly-tall stature-scoliosis-hearing loss syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.480 CATSHL syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000142.5(FGFR3):c.1637C>A (p.Thr546Lys) AND Camptodactyly-tall stature-scoliosis-hearing loss syn... 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
rs587777857 dbSNP
Genome
hg19
Position
chr4:1,807,388-1,807,388
Variant Type
snv
Reference Allele
C
Alternative Allele
A
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