chr17:50199591:CT> Detail (hg38) (COL1A1)

Information

Genome

Assembly Position
hg19 chr17:48,276,952-48,276,953 
hg38 chr17:50,199,591-50,199,592

HGVS

Type Transcript Protein
RefSeq NM_000088.3:c.299-2_299-1delAG
Ensemble ENST00000225964.10:c.299-2_299-1delAG
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 120150 OMIM
HGNC 2197 HGNC
Ensembl ENSG00000108821 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
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.316 osteogenesis imperfecta NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs193922154 dbSNP
Genome
hg38
Position
chr17:50,199,591-50,199,592
Variant Type
snv
Reference Allele
CT
Alternative Allele
-
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