chr17:48269166:C>T Detail (hg19) (COL1A1)

Information

Genome

Assembly Position
hg19 chr17:48,269,166-48,269,166
hg38 chr17:50,191,805-50,191,805 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000088.3:c.2110G>A NP_000079.2:p.Gly704Ser
Ensemble ENST00000225964.10:c.2110G>A ENST00000225964.10:p.Gly704Ser
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 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
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2019-03-19 criteria provided, single submitter not specified germline Detail
Pathogenic 2021-05-29 criteria provided, single submitter Osteogenesis imperfecta type I germline Detail
Pathogenic 2022-07-27 criteria provided, single submitter not provided germline Detail
Pathogenic 2022-07-27 criteria provided, single submitter Osteogenesis imperfecta, perinatal lethal de novo Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.562 Osteogenesis imperfecta type III (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000088.4(COL1A1):c.2110G>A (p.Gly704Ser) AND not specified ClinVar Detail
NM_000088.4(COL1A1):c.2110G>A (p.Gly704Ser) AND Osteogenesis imperfecta type I ClinVar Detail
NM_000088.4(COL1A1):c.2110G>A (p.Gly704Ser) AND not provided ClinVar Detail
NM_000088.4(COL1A1):c.2110G>A (p.Gly704Ser) AND Osteogenesis imperfecta, perinatal lethal 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
rs67368147 dbSNP
Genome
hg19
Position
chr17:48,269,166-48,269,166
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser