chr3:46944033:C>G Detail (hg19) (PTH1R)

Information

Genome

Assembly Position
hg19 chr3:46,944,033-46,944,033
hg38 chr3:46,902,543-46,902,543 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001184744.1:c.1229C>G NP_001171673.1:p.Thr410Arg
NM_000316.2:c.1229C>G NP_000307.1:p.Thr410Arg
Ensemble ENST00000313049.9:c.1229C>G ENST00000313049.9:p.Thr410Arg
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 168468 OMIM
HGNC 9608 HGNC
Ensembl ENSG00000160801 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 2004-07-01 no assertion criteria provided Metaphyseal chondrodysplasia, Jansen type germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.480 Jansen type metaphyseal chondrodysplasia NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000316.3(PTH1R):c.1229C>G (p.Thr410Arg) AND Metaphyseal chondrodysplasia, Jansen type 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
rs121434602 dbSNP
Genome
hg19
Position
chr3:46,944,033-46,944,033
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Genome browser