chr1:162754775:G>A Detail (hg38) (DDR2)

Information

Genome

Assembly Position
hg19 chr1:162,724,565-162,724,565 View the variant detail on this assembly version.
hg38 chr1:162,754,775-162,754,775

HGVS

Type Transcript Protein
RefSeq NM_006182.2:c.337G>A NP_006173.2:p.Glu113Lys
NM_001014796.1:c.337G>A NP_001014796.1:p.Glu113Lys
Ensemble ENST00000367921.8:c.337G>A ENST00000367921.8:p.Glu113Lys
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 191311 OMIM
HGNC 2731 HGNC
Ensembl ENSG00000162733 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM5670769 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2010-06-01 no assertion criteria provided Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome germline Detail
Pathogenic 2022-08-16 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.480 spondylometaepiphyseal dysplasia, short limb-hand type NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_006182.4(DDR2):c.337G>A (p.Glu113Lys) AND Spondyloepimetaphyseal dysplasia-short limb-abnormal ca... ClinVar Detail
NM_006182.4(DDR2):c.337G>A (p.Glu113Lys) AND not provided 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
rs397514747 dbSNP
Genome
hg38
Position
chr1:162,754,775-162,754,775
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser