chr17:48267694:G> Detail (hg19) (COL1A1)

Information

Genome

Assembly Position
hg19 chr17:48,267,694-48,267,694
hg38 chr17:50,190,333-50,190,333 

HGVS

Type Transcript Protein
RefSeq NM_000088.3:c.2445delC NP_000079.2:p.Pro817LeufsTer291
Ensemble ENST00000225964.10:c.2445delC ENST00000225964.10:p.Pro817LeufsTer291
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
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 COSM2698942 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2011-08-18 criteria provided, single submitter osteogenesis imperfecta germline Detail
Pathogenic 2023-12-18 criteria provided, single submitter Osteogenesis imperfecta type I germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.316 osteogenesis imperfecta NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000088.4(COL1A1):c.2450del (p.Pro817fs) AND Osteogenesis imperfecta ClinVar Detail
NM_000088.4(COL1A1):c.2450del (p.Pro817fs) AND Osteogenesis imperfecta type I 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
rs193922149 dbSNP
Genome
hg19
Position
chr17:48,267,694-48,267,694
Variant Type
snv
Reference Allele
G
Alternative Allele
-
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